The definition of a genetic disease is a disorder or condition caused by abnormalities in a person's genome. Some types of genetic inheritance include single inheritance, including cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis. Other types of genetic diseases include multifactorial inheritance. Still other types of genetic diseases include chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia). Read more: Genetic Diseases (Disorder Definition, Types, and Examples) Article
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Learn to Spot Depression: Symptoms, Warning Signs, Medication
What is depression? Get information on symptoms, signs, tests, and treatments for many types of depression including major...
10 Things Young Women Should Know About Breast Cancer
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Dementia, Alzheimer's Disease, and Aging Brains
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Bipolar Disorder: Symptoms, Testing for Bipolar Depression
Bipolar disorder (once called manic depression) causes extreme mood shifts and can be disorienting. Our experts define bipolar...
Breast Cancer Quiz: Symptoms & Signs
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Depression Quiz: Signs & Symptoms
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Alzheimers Disease Quiz: Stages, Symptoms & Signs
Take the Alzheimer's Quiz to discover some of the mysteries behind this cognitive disorder. Learn causes, symptoms, treatments,...
Blood and Bleeding Disorders Quiz
Exactly what is sickle cell anemia? Learn about sickle cell and other diseases by testing your IQ with the Blood and Bleeding...
Alzheimer's Disease Symptoms & Early Diagnosis
Learn the early warning signs and symptoms of Alzheimer's disease. Memory loss and confusion can be signs of normal aging, but...
Picture of Hereditary Hemorrhagic Telangiectasia
A genetic disease characterized by the presence of arteriovenous malformations (AVMs) which involve direct connections between...
Picture of Ataxia-telangiectasia
A progressive neurodegenerative genetic disease characterized by cerebellar ataxia, ocular telangiectasia, immune defects, and a...
Picture of Darier's Disease
Darier's disease, or keratosis follicularis, is a pruritic, autosomal dominant inherited disease with multiple discrete scaling,...
Picture of Lamellar Ichthyosis Arms
Lamellar ichthyosis (LI) often presents at birth with the infant encased in a collodion–like membrane (collodion baby) that is...
Picture of Huntington's Disease
Huntington's disease is a hereditary disorder caused by a faulty gene for a protein called huntingtin. See a picture of...
Picture of Multiple Lentigines Syndrome (Face)
The LEOPARD syndrome is caused by mutations in the gene for protein-tyrosine phosphatase, nonreceptor-type, 11 (PTPN11). See a...
Picture of Kawasaki's Disease
Blotchy erythema on the trunk of a child with Kawasaki's disease. See a picture of Kawasaki's Disease and learn more about the...
Picture of Hereditary Hemorrhagic Telangiectasia on Eye
Telangiectases on the bulbar conjuctiva. See a Hereditary Hemorrhagic Telangiectasia on Eye and learn more about the health topic.
Picture of Ataxia Telangiectasia (Ear)
There are telangiectasias on the ear of this child. See a picture of Ataxia Telangiectasia (Ear) and learn more about the health...
Picture of Ataxia Telangiectasia (Legs)
Hirsutism on the lower legs and ecchymoses secondary to ataxia and numerous falls. See a picture of Ataxia Telangiectasia (Legs)...
Picture of Basal Cell Nevus Syndrome
Numerous basal cell epitheliomas on the neck of a child. See a picture of Basal Cell Nevus Syndrome and learn more about the...
Physical Symptoms of Depression in Pictures
Depression can cause physical problems such as insomnia, chest pain, fatigue, headaches, and more. Learn the signs of depression...
Related Disease Conditions
Deep Vein Thrombosis (DVT, Blood Clot in the Legs)
Deep vein thrombosis (DVT) is a blood clot in the deep veins, and can be caused by broken bones, trauma to a limb, immobility, medications, smoking, cancer, genetic predisposition, and cancer. Symptoms of a deep vein thrombosis in a leg are swelling, tenderness, redness, warmth, and pain. Treatments for DVT include medications and surgery.
Asperger's Syndrome (Asperger Syndrome, Asperger Disorder)
Asperger's syndrome (AS, Asperger syndrome, Asperger disorder) is an autism spectrum disorder. Asperger's syndrome is characterized by a degree of impairment in language and communication skills, and repetitive or restrictive thoughts or behaviors. The most common symptom of Asperger's syndrome is the obsessive interest in a single object or topic.
Diabetes (Type 1 and Type 2)
Diabetes is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes are referred to as type 1 (insulin dependent) and type 2 (non-insulin dependent). Symptoms of diabetes include increased urine output, thirst, hunger, and fatigue. Treatment of diabetes depends on the type.
High Red Blood Cell Count (Polycythemia)
Polycythemia (elevated red blood cell count) is a rare blood disease in which the body produces too many red blood cells. Causes of polycythemia are either primary (acquired or genetic mutations) or secondary (diseases, conditions, high altitude).
Eczema is a general term for many types dermatitis (skin inflammation). Atopic dermatitis is the most common of the many types of eczema. Other types of eczema include: contact eczema, allergic contact eczema, seborrheic eczema, nummular eczema, stasis dermatitis, and dyshidrotic eczema.
Liver (Anatomy and Function)
The liver is the largest gland and organ in the body. There are a variety of liver diseases caused by liver inflammation, scarring of the liver, infection of the liver, gallstones, cancer, toxins, genetic diseases, and blood flow problems. Symptoms of liver disease generally do not occur until the liver disease is advanced. Some symptoms of liver disease include jaundice, nausea and vomiting, easy bruising, bleeding excessively, fatigue, weakness, weight loss, shortness of breath, leg swelling, impotence, and confusion. Treatment of diseases of the liver depends on the cause.
Colon cancer (bowel cancer) is a malignancy that arises from the inner lining of the colon. Most, if not all, of these cancers develop from colonic polyps. Removal of these precancerous polyps can prevent colon cancer.
Moles are small skin growths that may appear flat or raised and are often tan, brown, black, reddish brown, or skin colored. They are typically about the size of a pencil eraser. There are three types of moles. Monthly skin self-exams are essential in the early detection of abnormal moles and melanomas.
Fibrocystic Breast Disease
Fibrocystic breast condition (sometimes called fibrocystic breast disease) is characterized by lumpiness and usually pain, tenderness, and discomfort in one or both breasts. The condition is very common and benign (not malignant). Fibrocystic breast condition is the most common cause of "lumpy breasts" in women. A common symptom of fibrocystic breast condition is breast pain or discomfort. Some women with fibrocystic breasts have mile breast tenderness or pain. Other women with the condition may have very painful and tender breasts with lumpy areas that can be felt. Fibrocystic breast condition is most common in women after age 30, which continues through perimenopause and menopause. Women with the condition often have fewer problems after menopause (postmenopause).Fibrocystic breast condition that involves hyperplasia is associated with a slightly increased risk of developing breast cancer. Atypical hyperplasia is associated with a moderately increased risk of developing breast cancer compared to women with fibrocystic without fibrocystic changes. Natural and home remedies to help relieve breast pain include NSAIDs like aspiring, Aleve, and Advil. Prescription medication also may help relieve symptoms of fibrocystic breasts.
Nature vs. Nurture Theory (Genes vs. Environment)
In the nature vs. nurture debate, "nature" represents our genetic makeup. These are the genes you have inherited from your biological family, and that may affect your physical and mental health, for example, intelligence, disease, and psychological health. While "nurture" represents how our environment affects our intelligence, traits, personality, and mental and physical health. Studies have shown that a person's environment can alter his or her genes, and lower their risk of developing certain inherited diseases, conditions, and mental illnesses that run in his or her family. Researchers and doctors have found that particular physical traits like eye and skin color, and diseases like Huntington's chorea are the result of genetic inheritance (inherited from a family member). However, patterns of thinking and behavior can be attributed to both nature and nurture (your genes and your environment). Moreover, researchers who study the brain have found overwhelming evidence that a person's genetic factors and his or her experiences guide and support brain development. The human brain produces new nerve cells (neurons) into adulthood, and these nerve cells can change the strength of their connections throughout life, which can affect intelligence and other factors.
Pernicious anemia is a blood disorder in which the body does not make enough red blood cells due to a lack of vitamin B12 in the blood. Pernicious anemia can develop from a lack of a protein that helps the body absorb vitamin B12, not getting enough B12 in the diet, and certain intestinal conditions that interfere with the absorption of vitamin B12 such as Crohn's disease, celiac sprue, or ulcerative colitis. There is no cure for pernicious anemia, thus treatment is life-long.
Cholesterol (Lowering Your Cholesterol)
High cholesterol and triglyceride levels increase the risk of cardiovascular disease. Getting your cholesterol and triglyceride levels in an optimal range will help protect your heart and blood vessels. Cholesterol management may include lifestyle interventions (diet and exercise) as well as medications to get your total cholesterol, LDL, HDL, and triglycerides in an optimal range.
Anxiety is a feeling of apprehension and fear characterized by symptoms such as trouble concentrating, headaches, sleep problems, and irritability. Anxiety disorders are serious medical illnesses that affect approximately 19 million American adults. Treatment for anxiety may incorporate medications and psychotherapy.
Abdominal Aortic Aneurysm
Abdominal aortic aneurysm is a ballooning or widening of the main artery (the aorta) as it courses down through the abdomen. Most abdominal aortic aneurysms produce no symptoms. Treatment may include observation or surgical repair.
Parkinson's disease is a slowly progressive neurological disease characterized by a fixed inexpressive face, a tremor at rest, slowing of voluntary movements, a gait with short accelerating steps, peculiar posture and muscle weakness, caused by degeneration of an area of the brain called the basal ganglia, and by low production of the neurotransmitter dopamine. Most patients are over 50, but at least 10 percent are under 40.
Sickle Cell Disease (Anemia)
Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is caused by an inherited abnormal hemoglobin. Symptoms of sickle cell anemia may include bacterial infections, painful swelling of the hands and feet, fever, leg ulcers, fatigue, anemia, eye damage, and lung and heart injury. Treatment for sickle cell anemia aims to manage and prevent the worst manifestations of the disease and focuses on therapies that block red blood cells from stacking together, which can lead to tissue and organ damage and pain.
Multiple Sclerosis (MS) Symptoms, Causes, Treatment, Life Expectancy
Multiple sclerosis or MS is an autoimmune disorder in which brain and spinal cord nerve cells become demyelinated. This damage results in symptoms that may include numbness, weakness, vertigo, paralysis, and involuntary muscle contractions. Different forms of MS can follow variable courses from relatively benign to life-threatening. MS is treated with disease-modifying therapies. Some MS symptoms can be treated with medications.
Graves' disease is an autoimmune disease that affects the thyroid. Some of the symptoms of Graves' disease include hand tremors, rapid heartbeat, trouble sleeping, enlarged thyroid, thinning of the skin or fine brittle hair. Causes of Graves' disease are thought to be multifactorial such as genes, gender, stress, and infection. Treatment for Graves' disease is generally medication.
Type 2 Diabetes
Type 2 diabetes is a chronic condition that may be reversible with diet and lifestyle changes. Symptoms include excessive thirst, frequent urination, weight loss, fatigue, and an unusual odor to your urine. Most people don't know they have type 2 diabetes until they have a routine blood test. Treatment options include medications, a type 2 diabetes diet, and other lifestyle changes.
Peripheral neuropathy is a problem with the functioning of the nerves outside of the spinal cord. Symptoms may include numbness, weakness, burning pain (especially at night), and loss of reflexes. Possible causes may include carpel tunnel syndrome, shingles, vitamin or nutritional deficiencies, and illnesses like diabetes, syphilis, AIDS, and kidney failure. Peripheral neuropathy is diagnosed with exams and tests. Treatment for the condition depends on the cause. Usually, the prognosis for peripheral neuropathy is good if the cause can be successfully treated or prevented.
An allergy refers to a misguided reaction by our immune system in response to bodily contact with certain foreign substances. When these allergens come in contact with the body, it causes the immune system to develop an allergic reaction in people who are allergic to it. It is estimated that 50 million North Americans are affected by allergic conditions. The parts of the body that are prone to react to allergies include the eyes, nose, lungs, skin, and stomach. Common allergic disorders include hay fever, asthma, allergic eyes, allergic eczema, hives, and allergic shock.
Hemochromatosis (Iron Overload)
Hereditary hemochromatosis (iron overload) is an inherited disorder in which there is excessive accumulation of iron in the body. Individuals may have no symptoms or signs, or they can have severe symptoms and signs of iron overload. The most effective treatment for hemochromatosis is therapeutic phlebotomy.
Cervical Cancer (Cancer of the Cervix)
Cervical cancer is cancer of the entrance to the womb (uterus) caused by the human papillomavirus (HPV). Regular pelvic exams, Pap testing and screening can detect precancerous changes in the cervix. Cervical cancer can be prevented by a vaccine. The most common signs and symptoms are an increase in vaginal discharge, painful sex, and postmenopausal bleeding. The prognosis and survival rate depends upon the stage at which the cancer was diagnosed.
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of genetic (inherited) disorders all of which involve underproduction of hemoglobin. Beta thalassemia major symptoms include pale skin, irritability, growth retardation, swelling of the abdomen, and jaundice. Beta thalassemia treatments include directly relieving the symptoms of the illness.
Depression is an illness that involves the body, mood, and thoughts and affects the way a person eats and sleeps, the way one feels about oneself, and the way one thinks about things. The principal types of depression are major depression, dysthymia, and bipolar disease (also called manic-depressive disease).
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease leaves the body malnourished, with bulky and fouls smelling stools, vitamin insufficiency, gas, painful or swollen abdomen, infertility, susceptible to heat emergencies, and respiratory failure. There is no cure for cystic fibrosis, treatment of symptoms is used to manage the disease.
Angiomyolipomas are noncancerous tumors that are typically found in the kidney, but may occur in the liver, ovary, colon, or Fallopian tube. Symptoms and signs include shock, chronic kidney disease, anemia, vomiting, nausea, and back or flank pain. Treatment may involve taking medication and embolization of the tumor.
Fish Odor Syndrome (Trimethylaminuria)
Fish odor syndrome (trimethylaminuria) is a genetic disorder in which the symptoms of the syndrome include offensive body odor and the smell of rotting fish due to the excessive excretion of trimethylaminuria in the urine, sweat, and breath. There is no cure for fish odor syndrome.
Myasthenia gravis, a chronic autoimmune neuromuscular disease. Varying degrees of weakness of the voluntary muscles of the body are the main characteristics. A defect in the transmission of nerve impulses of the muscles is the cause of myasthenia gravis. Myasthenic crisis is when the muscles that control breathing weaken, which requires immediate medical attention. Symptoms include weakness of the eye muscles, facial expression, and difficulty swallowing. Treatment of myasthenia gravis includes medical therapies to control the symptoms of the disease.
Mental Illness in Children
About 5 million children and adolescents in the U.S. suffer from a serious mental illness such as eating disorders, anxiety disorders, disruptive behavior disorders, pervasive development disorders, elimination disorders, learning disorders, schizophrenia, tic disorders, and mood disorders. Symptoms of mental illness include frequent outbursts of anger, hyperactivity, fear of gaining weight, excessive worrying, frequent temper tantrums, and hearing voices that aren't there. Treatment may involve medication, psychotherapy, and creative therapies.
Marfan syndrome is hereditary (genetic) condition affecting connective tissue. A person with Marfan syndrome may exhibit the following symptoms and characteristics: Dislocation of one or both lenses of the eye A protruding or indented breastbone Scoliosis Flat feet Aortic dilatation Dural ectasia (a problem with the sac surrounding the spinal cord) Stretch marks Hernia Collapsed lung Though there is no cure for Marfan syndrome, there are treatments that can minimize and sometimes prevent some complications.
Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited disorder. Early symptoms include mood swings, apathy, depression, and anger uncharacteristic of the individual. Judgement, memory, and other cognitive functions may become impaired. Presymptomatic testing is available for individuals who have a family history of Huntington's disease. Treatment includes medication and therapy for symptoms.
Epilepsy is a brain disorder in which the person has seizures. There are two kinds of seizures, focal and generalized. There are many causes of epilepsy. Treatment of epilepsy (seizures) depends upon the cause and type of seizures experienced.
Hemophilia A and B (Bleeding Disorders)
Hemophilia is defined as one of a group of inherited bleeding disorders. Hemophilia A and hemophilia B are inherited in an X-linked recessive genetic pattern. Symptoms of hemophilia include bleeding into the: joints, muscles, GI or urinary tract, or brain or skull. Hemophilia treatment generally involves the replacement of blood clotting factors.
MS (Multiple Sclerosis) vs. ALS (Amyotrophic Lateral Sclerosis) Differences and Similarities
ALS (amyotrophic lateral sclerosis, Lou Gehrig's disease) and MS (multiple sclerosis) are both diseases of the nervous system (neurodegenerative). ALS is a disease in which the nerve cells in the body are attacked by the immune system, although it's not considered an autoimmune disease by some scientists. MS is an autoimmune disease in which the insulated covering of the nerves (myelin sheath) in the CNS (central nervous system) degenerate, or deteriorate. Scientists don't know the exact cause of either problem. However, they have discovered that mutations in the gene that produces the SOD1 enzyme were associated with some cases of familial ALS. Scientists also theorize that multiple sclerosis may be caused by infection or vitamin D deficiency. ALS occurs between 50-70 years of age (the average age of occurrence ALS is 55), and mostly affects men. While MS occurs between 20-60 years of age, and mostly affects women. About 30,000 people in the US have ALS, and an average of 5,000 new diagnoses per year (that's about 15 new cases per week). Worldwide, MS affects more than 2.3 million people, with about 10,000 new cases diagnosed each year (that's about 200 new diagnoses per week).Some of the signs and symptoms of both diseases include muscle weakness, muscle spasms, problems walking, fatigue, slurred speech, and problems swallowing. ALS signs and symptoms that are different from MS include problems holding the head upright, clumsiness, muscle cramps and twitches, problems holding objects, and uncontrollable periods of laughing or crying. MS signs and symptoms that are different from ALS include vision problems, vertigo and balance problems, sexual problems, memory problems, depression, mood swings, and digestive problems. There is no cure for either disease, however the prognosis and life expectancy are different. Multiple sclerosis is not a fatal condition, while ALS progresses rapidly and leads to death.
Cancer Risk Factors
Though it's difficult to say why some people develop cancer while others don't, research shows that certain risk factors increase a person's odds of developing cancer. These risk factors include growing older, family history of cancer, diet, alcohol and tobacco use, and exposure to sunlight, ionizing radiation, certain chemicals, and some viruses and bacteria.
What Foods to Avoid If You Have G6PD Deficiency
Glucose-6-phosphate dehydrogenase (G6PD) deficiency (G6PDD) is a genetic (hereditary) disorder. Therefore, you cannot prevent it. However, you can prevent the more serious G6PDD symptoms by avoiding certain foods such as fava beans, aniline dyes and certain medications.
Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and skin that stretches easily. There are seven types of Ehlers-Danlos syndromes: classical type, hypermobility type, vascular type, kyphoscoliosis type, arthrochalsia type, dermatosparaxis type, and tenascin-X deficient type. Treatment for Ehlers-Danlos syndromes depends on which symptoms and signs are present.
Trisomy 18, also known as Edwards syndrome, is a rare genetic disorder that causes severe birth defects in newborns. Signs and symptoms of trisomy 18 include heart and kidney defects, clenched fists, abnormalities of craniofacial structures, and more. Many times, cases of trisomy 18 are diagnosed in utero with the use of pregnancy screening tests. Treatment of the condition is aimed at improving the quality of life for affected infants. The average lifespan for an affected infant is 3 days to 2 weeks.
Heterochromia iridis is a rare condition that describes people with two different colored eyes. There are many potential underlying causes of heterochromia iridis including genetic and acquired conditions. Heterochromia iridis comes in three types: sectorial heterochromia, central heterochromia, and completely heterochromia. The condition is often recognized by a parent (in the case of an affected infant) or by the patient or a family member (acquired heterochromia iridis). Treatment includes addressing the underlying condition or wearing tinted contact lenses to make the eyes look more uniform. The majority of people with heterochromia iridis have an excellent prognosis.
Get the facts on Down syndrome, a genetic disorder caused by an additional set of chromosomes in a developing fetus. Down syndrome signs and symptoms include distinctive facial features, growth retardation, and decreased mental function and IQ. Blood tests and ultrasound may be used to screen for Down syndrome but chromosome analysis of the fetus is needed to diagnose the condition. People with Down syndrome age more quickly and may develop Alzheimer's disease as young as age 40. Sometimes people are diagnosed with mosaic Down syndrome, in which case they have more than one type of chromosomal makeup.
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function, and features of the syndrome include webbed neck, lymphedema of the hands and feet, heart defects, kidney problems, and skeletal abnormalities. The X chromosome is related to Turner syndrome. Treatment focuses on the symptoms of the syndrome.
Type 1 Diabetes (Symptoms, Causes, Diet, Treatment, Life Expectancy)
Type 1 diabetes mellitus (juvenile) is an auto-immune disease with no known cause at this time, although there are a few risk factors. Symptoms of type 1 diabetes include frequent urination, unintentional weight loss, dry and itchy skin, vision problems, wounds that heal slowly, and excessive thirst. Type 1 diabetes is diagnosed with blood tests. A healthy lifestyle and controlling blood glucose levels can improve life expectancy.
Age-related macular degeneration (AMD) is a disease that gradually destroys the central vision. In people over 60, AMD is a leading cause of vision loss. Wet AMD occurs when abnormal blood vessels behind the retina start to grow under the macula, leaking blood and fluid and causing rapid vision loss. In dry AMD, light-sensitive cells slowly break down in the macula, resulting in gradual vision loss. Pain is not associated with either form of AMD.
Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in the hands, small-raised reddish-purplish blemishes on the skin, fever, decreases sweating, and gastrointestinal (GI) difficulties. Fabry disease patients are at increased risk of heart attack, heart disease, kidney failure, and stroke. Symptoms of Fabry disease can be treated with medication.
Autism Spectrum Disorder (in Children and Adults)
Autism in children and adults is a developmental disorder, characterized by impaired development in communication, social interaction, and behavior. Autism is classified as a pervasive developmental disorder (PDD), which is part of a broad spectrum of developmental disorders affecting young children and adults. There are numerous theories and studies about the cause of autism. The treatment model for autism is an educational program that is suitable to an individual's developmental level of performance. There is no "cure" for autism.
Connective Tissue (CT) Disease
Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation. Inherited connective tissue diseases include Marfan syndrome and Ehlers-Danlos syndrome. Systemic lupus erythematosus, rheumatoid arthritis, scleroderma, polymositis, and dermatomyositis are examples of connective tissue diseases that have no known cause.
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes. Mutations in the genetic material (DNA) in the mitochondria cause MELAS syndrome.
Hay Fever (Allergic Rhinitis)
Hay fever (allergic rhinitis) is an irritation of the nose caused by pollen and is associated with the following allergic symptoms: nasal congestion, runny nose, sneezing, eye and nose itching, and tearing eyes. Avoidance of known allergens is the recommended treatment, but if this is not possible, antihistamines, decongestants, and nasal sprays may help alleviate symptoms.
Osteogenesis Imperfecta (Brittle Bone Disease)
Osteogenesis imperfecta (OI) or brittle bone disease, is an inherited (genetic) disorder that results in abnormal bone formation, which causes the bones to break (fracture) easily. There are eight types of osteogenesis imperfecta. Osteogenesis imperfecta symptoms include skeletal deformity, frequent broken bones, and hearing problems. Tests diagnose osteogenesis imperfecta. Treatment for brittle bone disease is to manage symptoms. There is no cure for osteogenesis imperfecta.
Microcephaly is a genetic condition where the circumference of the head is smaller than normal due to underdeveloped brain. Microcephaly is caused by genetic abnormalities, abuse of alcohol or drugs, infection (for example, Zika virus, German measles, or chickenpox), exposure to toxins, or PKU while the mother is pregnant. Symptoms of microcephaly depend upon the severity of the accompanying syndrome. There is no treatment for microcephaly.
Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely benign. Only very rarely is a pheochromocytoma malignant. People with pheochromocytoma usually show these three symptoms headache, sweating, and heart palpitations (a fast heart beat) in association with markedly elevated blood pressure (hypertension).
Bipolar disorder (or manic depression) is a mental illness characterized by depression, mania, and severe mood swings. Treatment may incorporate mood-stabilizer medications, antidepressants, and psychotherapy.
Fragile X Syndrome
Fragile X syndrome is the most common inherited form of mental retardation. It's caused by a mutation on the X chromosome. People with Fragile X syndrome suffer from physical, social, emotional, speech, language, sensory, intelligence, and learning impairments. There is no definitive treatment for Fragile X, though there are ways to minimize the symptoms.
Neuropathic pain is a chronic condition that leads to ongoing pain symptoms. Patients can be predisposed to developing neuropathic pain who have conditions such as diabetes, cancer, stroke, HIV, vitamin deficiencies, shingles, and multiple sclerosis. Patient history and nerve testing are used to diagnose neuropathic pain. Antidepressants, antiseizure medications, and other types of medications are used to treat neuropathic pain. Many people with neuropathic pain are able to attain some level of relief.
Lipodystrophy (Acquired, Generalized, Inherited)
Lipodystrophy is a syndrome in which fat deposits accumulate all over the body, or sometimes just portions of it, like just the upper or lower body, or places on the skin where you give yourself daily allergy or insulin shots). You can be born with the generalized congenital or inherited type, or you can acquire it from HIV treatment drugs, infections, autoimmune diseases, trauma, or from repeated injections in the same place on the skin. The symptoms, treatment, and management depend upon the patient's type of lipodystrophy.
Miscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a woman having a miscarriage include cigarette smoking, older maternal age, radiation exposure, previous miscarriage, maternal weight, illicit drug use, use of NSAIDs, and trauma or anatomical abnormalities to the uterus. There are five classified types of miscarriage: 1) threatened abortion; 2) incomplete abortion; 3) complete abortion; 4) missed abortion; and (5 septic abortion. While there are no specific treatments to stop a miscarriage, a woman's doctor may advise avoiding certain activities, bed rest, etc. If a woman believes she has had a miscarriage, she needs to seek prompt medical attention.
Alzheimer's disease is a common cause of dementia. Symptoms and warning signs of Alzheimer's disease include memory loss, difficulty performing familiar tasks, disorientation to time and place, misplacing things, and more. The biggest risk factor for Alzheimer's disease is increased age. Treatment for Alzheimer's is often targeted toward decreasing the symptoms and progression of the disease.
Interstitial Lung Disease (Interstitial Pneumonia)
Interstitial lung disease refers to a variety of diseased that thicken the tissue between the lungs' air sacks. Viruses, bacteria, tobacco smoke, environmental factors, cancer, and heart or kidney failure can all cause interstitial lung disease. Shortness of breath, cough, and vascular problems are symptoms caused by interstitial lung disease, and their treatment depends on the underlying cause of the tissue thickening.
Hereditary Angioedema (HAE)
Hereditary angioedema or HAE is a genetic disease that causes swelling of the skin and tissues beneath it. Symptoms of HAE include shortness of breath, mood changes, laryngeal edema (a medical emergency), swelling of the hands and feet, muscle aches, and skin tingling. Treatment of HAE includes medication and avoidance of triggers.
Pfeiffer syndrome, a rare genetic disorder, is characterized by craniosynostosis and other birth defects. There are three subtypes of Pfeiffer syndrome. In type I Pfeiffer syndrome the individual usually has a normal lifespan and typical intelligence. Individuals with types II and II have more severe birth defects that can affect brain development and function. Signs and symptoms of Pfeiffer syndrome include a high forehead, prominent lower jaw, protrusion of the eyes, beaked nose, and short fingers and toes. There is no cure for Pfeiffer syndrome.
Face Blindness (Prosopagnosia)
Face blindness (prosopagnosia) is a condition that causes the inability to recognize faces. Face blindness may be caused by stroke, traumatic brain injury, or certain neurodegenerative diseases. Treatment involves helping the patient develop compensatory strategies.
Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males. Symptoms include decreased testosterone levels, development of breasts, wider hips, and infertility. Some men with Klinefelter syndrome have no symptoms. Treatment includes educational, therapeutic, and medical therapy.
Anencephaly is a neural tube defect that prevents abnormal development of the brain and bones of the skull, and are missing large areas of the brain; some may have and incomplete skull. Ancecephaly affects the thinking, hearing, vision, emotion, and coordination areas of the brain. A combination of genetic and environmental factors are believed to to cause this condition. There is no treatment for anencephaly.
Hyperparathyroidism is a disorder of the parathyroid glands. There are two types of hyperparathyroidism, primary and secondary. When the parathyroid glands produce too much hormone, hyperparathyroidism is the resulting condition. Most cases of hyperparathyroidism have no evident cause. Signs and symptoms of hyperparathyroidism include fatigue, weakness, depression, loss of appetite, nausea, vomiting, constipation, or confusion. Increased calcium and phosphorous excretion may cause kidney stones. The main treatment of hyperparathyroidism is surgery (parathyroidectomy).
Diabetes insipidus is a condition in which the patient has frequent urination. Symptoms of diabetes insipidus include irritable, listless, fever, vomiting, or diarrhea due to the loss of large volumes of urine. There are three types of diabetes insipidus, central, nephrogenic, dipsogenic, and gestational. Treatment depends upon the type of diabetes insipidus.
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral palsy is generally caused by brain trauma. Types of cerebral palsy include: spastic, dyskinetic (dystonic or choreoathetoid), hypotonic, and mixed types. There is no cure for cerebral palsy, and treatment is generally managing the symptoms of the condition.
Loeys-Dietz syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with Loeys-Dietz syndrome are at a greater risk of dying from aortic aneurysms, because the aneurysms are prone to rupture at a smaller size than other aneurysms. Physical characteristics of the syndrome include early fusion of the skull bones, widely spaced eyes, and split uvula or cleft palate. Treatment includes surgical repair fo the aneurysms.
Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast self-examination (BSE), biopsy, and specialized testing on breast cancer tissue. Treatment of breast cancer may involve surgery, radiation, hormone therapy, chemotherapy, and targeted therapy. Breast cancer risk may be lowered by managing controllable risk factors.
Hyperdontia is a condition in which a person has an excessive amount of teeth (more than 20 primary teeth or 32 permanent teeth). The cause is unknown. Treatment involves tooth removal.
Gaucher disease is caused by an inherited (genetic) defect in an enzyme glucocerebroside. Signs and symptoms for Gaucher disease include anemia (low blood cell count), easy bruising, easy bleeding, bone pain, fatigue, low platelet count (thrombocytopenia), and enlarged liver and spleen. There are different types of Gaucher disease. Treatment for Gaucher disease depends on type, and symptoms of the disease.
7 Alzheimer's Disease Stages and Symptoms
The signs and symptoms of Alzheimer's disease depend on the stage of the disease. Some doctors and researchers disagree in regard to the number of stages of Alzheimer's disease (from 1 to 7 stages). The Global Deterioration Scale or GDS identifies seven stages of Alzheimer's disease that include stage 1 (no impairment), stage 2 (very mild cognitive decline), stage 3 (mild cognitive decline), stage 4 (moderate cognitive decline), stage 5 (moderately severe decline), stage 6 (severe decline), and stage 7 (very severe decline). There is no cure for Alzheimer's disease, however, there are drugs and therapies to help the symptoms Alzheimer's disease causes.
Tourette syndrome is disorder, which symptoms include involuntary facial tics, motor tics, and vocal tics. The cause of Tourette syndrome is not known. ADHD is associated with Tourette syndrome. Treatment includes medication, psychotherapy, and in severe cases surgery.
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the mother. Infants with Angelman syndrome often have feeding problems and exhibit noticeable developmental delays by six to 12 months of age. Other symptoms include seizures, hyperactivity, speech impairment, small head size, sleep disorders, and movement and balance disorders. There is no specific treatment or therapy for Angelman syndrome.
Lewy Body Dementia (Dementia with Lewy Bodies)
Lewy body dementia (LBD or dementia with Lewy bodies) is one the most common causes of dementia. There are two types of LBD: 1) dementia with Lewy bodies, and 2) Parkinson's disease dementia. Symptoms of LBD are changes in a person's ability to think, movement problems, and sleep disorders. Treatment of LBD includes lifestyle changes, management of symptoms, palliative care, and medications to manage symptoms.
Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency (AATD) is an inherited disorder caused by mutations in the SERPINA1 gene. People with the condition are at risk for developing serious lung and liver disease.
Treacher Collins Syndrome
Treacher Collins syndrome (TCS) is a rare genetic condition that affects the development of the bones and tissues of the face. Symptoms can range from mild to severe, and include: Malformations of the eyes Anomalies of the structures of the external and middle ear Feeding or swallowing difficulties. Treatment of symptoms requires a multidisciplinary approach. Sometimes surgery may help relieve a patient's symptoms.
ALS (Amyotrophic Lateral Sclerosis) Symptoms, Causes, Life Expectancy
Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks the nerve cells responsible for the control of voluntary muscles. Early symptoms include cramping, twitching, or stiffness of the muscles; slurred nasal speech; difficulty swallowing or chewing, and muscle weakness in an arm or leg. Currently, the cause of ALS is not known. ALS is a fatal disease. No cure has been found for ALS, however, the drug riluzole (Rilutek) is FDA approved, and this drug reduces the damage to motor neurons by decreasing the release of glutamate.
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the causes of birth defects include genetic or chromosome problems. Exposure of the mother to rubella or German measles during pregnancy, or using drugs or alcohol during pregnancy. The treatment for birth defects depends upon the condition of the effected child.
Polycystic Kidney Disease (PKD)
Polycystic kidney disease (PKD) is characterized by numerous cysts in the kidneys. Polycystic kidney disease is a genetic disorder. There are two major inherited forms of PKD, autosomal dominant PKD, and autosomal recessive PKD. Symptoms include headaches, urinary tract infections, blood in the urine, liver and pancreatic cysts, abnormal heart valves, high blood pressure, kidney stones, aneurysms, and diverticulosis. Diagnosis of PKD is generally with ultrasound, CT or MRI scan. There is no cure for PKD, so treatment of symptoms is usually the general protocol.
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications of achondroplasia that need monitoring include (this is not all inclusive) stenosis and compression of the spinal cord, a large opening under the skull, lordosis, kyphosis, spinal stenosis, hydrocephalus, middle ear infections, obesity, and dental crowning. Achondroplasia is caused by mutations of the FGFR3 gene.
The cornea is the clear outer layer of the eye. If it is damaged by disease, infection, or injury, vision problems may occur. Corneal problems can be detected by having an eye exam. Corneal problems can be prevented by protecting the eyes from injury and avoiding contact with people who have eye infections.
Spinal Muscular Atrophy (SMA)
Spinal muscular atrophy (SMA) is an inherited (genetic) disease that attacks motor neurons (nerve cells) in the spinal cord. As the nerve cells die, muscle cells weaken and cause signs and symptoms that affect head and neck control, walking, crawling, breathing, and swallowing. There are numerous types of spinal muscle atrophy. Treatments for spinal muscle atrophy are directed at managing symptoms of the disease. There is no cure for spinal muscle atrophy, and some types cause death.
Hailey-Hailey Disease (Familial Benign Pemphigus)
Hailey-Hailey disease (familial benign pemphigus) is a hereditary skin disease that causes painful blistering the skin folds. There is no specific treatment for this disease, and treatment focuses on alleviating symptoms and signs.
MPS I (Mucopolysaccharidosis Type I, Hurler Syndrome)
MPS I (also referred to as mucopolysaccharidosis Type I or Hurler syndrome) is a genetic, inherited condition that involves chromosome number 4. Symptoms of MPS I include Thick lips Eye problems Chronic nasal discharge Enlarged spleen or other abdominal organs Joint stiffness Coarsening of facial features There is no cure for MPS I, but signs and symptoms may be managed with enzyme replacement therapy and surgery to improve symptoms.
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood. Phenylalanine is an amino acid that is obtained through diet, and is found in some artificial sweeteners. Signs and symptoms of PKU may vary from mild to severe, and may include: Behavioral problems Developmental delays Autism Seizures PKU has an autosomal recessive pattern of inheritance.
Campomelic dysplasia is a rare inherited condition that may be life threatening. The condition affects the skeleton and reproductive system.
Hunter Syndrome (Mucopolysaccharidosis II, MPS II)
Hunter syndrome (mucopolysaccharidosis II, MPS II) is an inherited or genetic disease. Signs and symptoms of Hunter syndrome include diarrhea, voice changes, facial changes, and distended abdomen. Treatment for Hunter syndrome is geared toward symptoms of the disease with idursulfase or Elaprase (enzyme replacement therapy).
Pseudoxanthoma elasticum (PXE) is a genetic disorder. Signs and symptoms include small yellow-white raised areas in the skin folds on the neck, armpits, and other areas that bend a great deal. These signs usually appear in the 20's and 30's. The heart can also be affected by arthrosclerosis and mitrovalve prolapse. There is no cure for PXE.
Osteoarthritis vs. Osteoporosis Differences and Similarities
Arthritis is defined as painful inflammation and joint stiffness. Osteoarthritis is a type of arthritis and the most common cause of chronic joint pain, affecting over 25 million Americans. Osteoarthritis is a type of arthritis that involves the entire joint. Osteoporosis is not a type of arthritis. It is a disease that mainly is caused by a loss of bone tissue that is not limited to the joint areas. It is possible for one person to have both osteoarthritis and osteoporosis. The differences in the signs and symptoms of osteoarthritis and osteoporosis include; pain, stiffness, and joint swelling, joint deformity, crackle sounds when the joint is moving, and walking with a limp. Osteoporosis is called the "silent disease" because it can progress for years without signs and symptoms before it is diagnosed, severe back pain, bone fractures, height loss, and difficulty or inability to walk. The differences in the causes of osteoarthritis and osteoporosis are that osteoarthritis usually is caused by wear and tear on the joints. Osteoporosis usually is caused by one or more underlying problems, for example, calcium and vitamin D deficiencies. Treatment for osteoarthritis and osteoporosis are not the same. There is no cure for osteoarthritis or osteoporosis.
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under increased pressure and can compress and damage the brain. Symptoms of hydrocephalus vary with age, progression of the disease, and individual tolerance to the condition. Hydrocephalus is most often treated by surgery in which a shunt system is inserted.
Porphyria is a group of disorders that affect the nervous system, skin, or both. Porphyria is often an inherited condition that causes blistering, itching, and swelling of the skin. Treatment of porphyria may include avoiding triggers, receiving heme, taking medication, or having blood drawn to reduce iron levels in the body.
Hearing loss (deafness) may be present at birth or it may manifest later in life. Deafness may be genetic or due to damage from noise. Treatment of deafness depends upon its cause. Sensorineural hearing loss can be caused by conditions affecting the: cochlea, eighth cranial nerve, spinal cord, or brain. Examples of conditions that can lead to sensorineural hearing loss include: Meniere's disease, noise-induced hearing loss hearing loss of aging (presbycusis), nerve injury from syphilis, hearing loss of unknown cause (idiopathic hearing loss), nerve tumors, and drug toxicity (such as aspirin and aminoglycosides).
Mental illness is any disease or condition affecting the brain that influence the way a person thinks, feels, behaves, and/or relates to others. Mental illness is caused by heredity, biology, psychological trauma and environmental stressors.
Williams syndrome is a developmental disorder that affects many parts of the body. Signs, symptoms, characteristics and features may include intellectual disability, learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel problems. Williams syndrome is a genetic condition that involves chromosome 7.
What Is the Life Expectancy of Someone With Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency (A1AD or AATD) is an inherited genetic disorder that occurs due to the mutation of the gene, Serpina1. This results in insufficient levels of alpha-1 antitrypsin (A1AT or AA), which is a protein that protects the lungs. With appropriate treatment, most patients would be able to live a good life with normal life expectancy, work, play sports and exercise.
Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing, reading, speaking, reasoning, and performing mathematics. There is no cure for learning disabilities. Parents and teachers working together to properly diagnose learning disabilities can properly plan a course of education. For some, medication may be appropriate as complimentary treatment.
Hypersomnia is a condition where a person has excessive daytime sleepiness and trouble staying awake during the day. Treatment for hypersomnia includes medication, CPAP machines, and lifestyle changes.
Spina Bifida (Anencephaly, Neural Tube Defects) in Babies and Adults
Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2) closed neural tube defects, 3) meningocele, and 4) myelomeningocele. The cause of spina bifida is not known. Theories include genetic, nutritional, and environmental factors. Lack of folic acid during pregnancy is highly suspected. Symptoms of spina bifida vary from individual to individual. Treatment depends on the type of spanina bifida the person suffers.
Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are: short stature, brittle bones, short fingers, the midface is less full than usual, a prominent nose, small jaw, and more. There is no cure for pycnodysostosis.
Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the peripheral nerves. CMT symptoms and signs include weakness of the lower leg muscles and foot, foot drop, foot deformities, etc. There are several forms of Charcot-Marie-Tooth disease. Inherited gene mutations are the cause of Charcot-Marie-Tooth disease. There is no cure for Charcot-Marie-Tooth disease, however, therapeutic measures and mild exercise may help symptoms.
There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major symptoms of Usher syndrome include retinitis pigmentosa (night-blindness and a loss of peripheral vision), and hearing loss. Usher syndrome is a genetic condition. There is no cure for Usher syndrome.
Klippel-Trènaunay-Weber (KTW) syndrome is a condition characterized by: port-wine stains or birthmark malformations in the skin, soft tissue and bony growths (generally involving a limb), and vascular anomalies (varicose veins). Although these three symptoms are consistently found in patients with Klippel-Trènaunay-Weber syndrome, there are other symptoms, which include atrophy (a limb that is underdeveloped), fingers and toes that are disproportionately large or small, digits that are webbed (syndactyly), too many digits (polydactyly), or too few digits (oligodactyly). The cause of Klippel-Trènaunay-Weber syndrome is not known. However, recently there have been some cases that run in families. There is no significant treatment for Klippel-Trènaunay-Weber syndrome.
Hirschsprung Disease (Symptoms, Causes, and Treatments)
Hirschsprung disease is an inherited condition that is present at birth (congenital) in which the nerves of parts of the large intestine are missing. The primary symptom is constipation. The diagnosis of Hirschsprung disease is made by examining the newborn or child, genetic testing, and other test results. Treatment for Hirschsprung disease is surgery, either pull-through procedure for newborns or ostomy for children. Most newborns and toddlers feel much better after surgery.Other information about Hirschsprung disease.Hirschsprung disease is a genetic, or inherited, condition. Other symptoms in newborns and toddlers are: Diarrhea, often with blood. Green or brown vomit Abdominal distension Nausea and vomiting Weight loss Sepsis Failure to thrive in infancy Intestinal obstruction Slow growth Intellectual disability The only treatment for Hirschsprung disease is surgery. Doctors and surgeons treat newborns with a pull-through procedure in which the surgeon removes the part of the large intestine that is missing nerves and connects it to the healthy part of the anus. Toddlers and children require ostomy surgery, in which part of the intestine is brought through the abdominal wall so that feces can leave the body without passing through the anus. The opening in the abdominal wall is called a stoma, and a removable external pouch is attached to it. Complications can occur with either type of surgery, and may include: Narrowing of the anus Enterocolitis Delayed toilet training Stool leaking from the anus Hirschsprung disease can be a medical emergency that requires surgery. If your newborn or child has these symptoms listed, contact your OB/GYN or Pediatrician urgently. REFERENCES: NIH; National Institute of Diabetes and Digestive Diseases. "Hirschsprung Disease." Updated: Sep 2015.<https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease> Genetic Home Reference. "Hirschsprung disease." Updated: Jun 27, 2017.<https://ghr.nlm.nih.gov/condition/hirschsprung-disease#synonyms> NCBI. "Hirschsprung Disease Overview." Updated: Oct 1, 2015.<https://www.ncbi.nlm.nih.gov/books/NBK1439/> NIH; National Center for Advancing Translational Sciences; GARD. "Hirschsprung's disease." Updated: Jun 01, 2017.<https://rarediseases.info.nih.gov/diseases/6660/hirschsprungs-disease>
Learn about mitochondrial disease, genetic disease in which include a group of neuromuscular diseases that are caused by damage to the mitochondria Common mitochondrial myopathies include Kearns–Sayre syndrome, myoclonus epilepsy, and mitochondrial encephalomyopathy. Symptoms of mitochondrial disease include heart failure, exercise intolerance, dementia, muscle weakness, movement disorders, deafness, blindness, stroke-like episodes, and more. There is no specific treatment for mitochondrial disease.
Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when hemoglobin from red blood cells degrades. Elevated bilirubin can cause, jaundice, which is yellowing of the eyes. Gilbert syndrome does not need to be treated and has a good prognosis.
Gardner's Syndrome (Familial Adenomatous Polyposis)
Gardners' syndrome, or familial adenomatous polyposis (FAP), is an inherited condition in which cancer of the colon and rectum develop. Colon polyps and growths may develop as early as the teens. If these polyps are not removed, they will become cancerous. There are different inheritance patterns for familial adenomatous polyposis.
G6PD deficiency (Glucose 6-phosphate dehydrogenase) leads to a condition called hemolytic anemia. Causes of G6PD deficiency is an abnormal gene located in the X-chromosome, therefore, it is more common in males. Hemolytic anemia caused by G6PD deficiency generally occurs after exposure to malaria medications, antiitching drugs, and fava beans. Pneumonia and other infections can also precipitate hemolytic anemia in individuals with G6PD deficiency. Treatment is generally discontinuing the drug or compound treating infection. Blood transfusions are necessary in some individuals.
Kidney Dysplasia: In Infants and Children
Kidney dysplasia is a condition in which one or both of a baby's kidneys do not develop normally. In kidney dysplasia, cysts replace normal kidney tissue. Signs of kidney dysplasia include enlarged kidneys and, rarely, high blood pressure. A child with kidney dysplasia may not have any symptoms. Genes and maternal exposure to certain drugs may cause kidney dysplasia. Regular checkups should include blood pressure measurements, kidney function tests, and urine testing for protein.
What Is the Life Expectancy of Someone With Noonan Syndrome?
There is a wide range in the severity of signs and symptoms in people with Noonan syndrome (NS). Therefore, the prognosis (long-term outlook) of this disease may vary in every case. The life expectancy of a person with NS is likely to be normal if serious heart defects are absent.
1p36 Deletion Syndrome
1p36 deletion syndrome is a genetic disorder that causes severe intellectual disability. Characteristics of 1p36 deletion sndrome include temper tantrums, biting, and other behavoiral problems. Physical conditions include seizures, hypotonia, swallowing problems, and microbrachycephaly.
Frontotemporal Dementia (Pick's Disease and Semantic Dementia)
Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain. Frontotemporal dementia used to be referred to as Pick's disease. Frontotemporal dementia has a strong genetic component. Symptoms of frontotemporal dementia include changes in behavior or problems with language. There is no treatment that slows the progression of frontotemporal dementia. Medication may be prescribed to improve symptoms. The outcome for patient's with frontotemporal dementia is poor.
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in chestbone, webbing of the neck as well as heart and blood vessel defects. Named after Dr. Jacqueline A. Noonan it is inherited as an autosomal dominant disorder. The Noonan gene (NS1) is on a nonsex (autosomal) chromosome (number 12) and is transmitted from a parent with a 50% probability to boy or girl. Treatment for Noonan syndrome is directed toward the problems that may occur in a given affected individual. The heart defects may require surgical treatment. The expected outcome (prognosis) depends on the extent and severity of the features that are present.
Auditory Processing Disorder in Children
Children with auditory processing disorders often do not recognize subtle differences between sounds in words, even though the sounds themselves are loud and clear. Symptoms of auditory processing disorder include low academic performance, behavior problems, difficulty with language and reading, and trouble paying attention. Treatment may involve auditory trainers, environmental modifications, auditory memory enhancement, and auditory integration training.
Pendred syndrome, a genetic disorder that causes hearing loss. Generally, the hearing loss is affected in early childhood. Pendred syndrome also affects other parts fo the body (for example, the thyroid gland). Treatment is generally cochlear ear implants.
What Is Down Syndrome?
Down syndrome is a type of genetic disorder in which a person has an extra chromosome (rod-like structures that contain genes) inside the cells. In the case of a baby with Down syndrome, there is an extra copy of one of these chromosomes, that is, chromosome 21.
Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of Wolff-Parkinson-White syndrome include: tachycardia, dizziness, palpitations, fainting, and shortness of breath. Wolff-Parkinson-White syndrome is a common cause of paroxysmal supraventricular tachycardia. Wolff-Parkinson-White syndrome is caused by mutations in the PRKAG2 gene.
Periodic Paralysis Syndrome (Types, Symptoms, Diagnosis, and Diet)
Periodic paralysis syndrome comprises several types of rare muscle diseases in which a person experiences temporary muscle paralysis of one area of the body, or the entire body for a few minutes or days. The person regains normal muscle strength between periods of muscle weakness. You inherit the syndrome from your biological mother or father, or from a mutation in your genes. This gene mutation determines the type of periodic paralysis you have. The other symptoms depend upon the type of periodic paralysis you have. For example: Hyperkalemic periodic paralysis is usually seen in children under the age of 10. An early symptom may be a lagging eyelid. Normokalemic periodic paralysis causes weakness. Hypokalemia periodic paralysis 1 or hypoPP1L usually begins in childhood with symptoms of episodic muscle weakness in addition to irregular heartbeats. The symptoms may last through age 20-40. Hypokalemia periodic paralysis 2 or hypoPP2 has the same signs and symptoms as hypoPP1. Thyrotoxic periodic paralysis or TPP causes symptoms of weakness that involves the muscles that help you breathe. Paramyotonia Congenita or PCM produces symptoms like a weakness response to cold or increased activity and muscle weakness and rigidity. Potassium aggravated myotonias, when triggered by exercise can an attack of muscle stiffness. Andersen-Tawil syndrome or ATS cause symptoms of irregular heart rhythms. Familial periodic paralysis is a term used by doctors to describe four of the periodic paralysis syndromes. Treatment of periodic paralysis syndrome depends upon the kind of syndrome you have. Your doctor may make changes to your diet and prescribe prescription medication. REFERENCE: Stripathi, N., MD. "Periodic paralyses." Medscape. Updated: May 18, 2017.< http://emedicine.medscape.com/article/1171678-overview>
Niemann-Pick disease is genetic (inherited) disease referred to as lipid storage disease. Niemann-Pick disease is divided into four main types: A, B, C1, and C2. Niemann-Pick disease symptoms and signs include neurological conditions, ataxia, spasticity, increased sensitivity to being touched, and slurred speech. No treatments or cure for Niemann-Pick disease exist, so the prognosis and life expectancy depend on the type, causes, genetic inheritance, and age.
Leigh's Disease (Leigh's Syndrome)
Leigh's disease (Leigh's syndrome) is a rare genetic neurometabolic disorder. The symptoms of Leigh's disease include loss of appetite, loss of previously acquired motor skills, vomiting, irritability, and seizures. The most common treatment for Leigh's disease is thiamine or Vitamin B1. The prognosis for Leigh's disease is poor.
Parry-Romberg syndrome is a rare disorder that is characterized by a slow progressive atrophy of the skin and soft tissues of half of the face. The facial changes generally begin between the ages of 5 and 15 years. There is no treatment or cure for Parry-Romberg syndrome.
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor feeding problems in early infancy later followed in infancy by excessive eating that may lead to extreme obesity. The genitals in both females and males are underdeveloped and most are infertile. Prader-Willi syndrome is related to chromosome 15.
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the code for the alpha chains of hemoglobin. When one gene is impaired, that person is in a carrier state and suffers no medical problems. When four genes are impaired, the production of fetal and adult hemoglobin is prevented, resulting in hydrops fetalis and leading to death before birth.
Friedreich's Ataxia Syndrome
Friedreich's ataxia syndrome is a rare inherited (genetic) disease that causes progressive nervous system damage and movement problems. Friedreich's ataxia syndrome usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. Symptoms of Friedreich's ataxia syndrome include poor balance, slurred and jerky speech, and difficulty with coordination. Genetic testing and other procedures are used to confirm the diagnosis of Friedreich's ataxia syndrome. There is no effective treatment or cure for Friedreich's ataxia syndrome, however; the symptoms of Friedreich's ataxia syndrome can be treated.
Hutchinson-Gilford Progeria Syndrome
Hutchinson-Gilford progeria syndrome is an inherited genetic condition. This syndrome is characterized by a dramatic, rapid appearance of aging beginning in childhood. Children with Hutchinson-Gilford progeria syndrome look normal at birth and infancy. Signs and symptoms of Hutchinson-Gilford progeria syndrome include prominent eyes, protruding ears, thin nose with a beaked tip, thin lips, and a small chin. This syndrome may cause hair loss, aged-looking skin, joint abnormalities, and loss of fat under the skin. Hutchinson-Gilford progeria syndrome is caused by the mutation of the LMNA gene.
Tuberous Sclerosis Complex (TSC)
Tuberous sclerosis complex (TSC) is a rare genetic disease caused by defects on two genes. The signs and symptoms of TSC vary depending on which organs and systems are involved. Common symptoms include benign tumors, seizures, behavior problems, skin abnormalities, and cognitive impairment. TSC treatment focuses on alleviating the symptoms with medications, special schooling, surgery, supplemental oxygen therapy, lung transplantation, and occupational therapy.
Tetrahydrobiopterin deficiency is a rare genetic disorder that increases the levels of phenylalanine and several other substances in the blood, at birth. Symptoms of Tetrahydrobiopterin deficiency include movement disorders, difficulty swallowing, seizures, and more. Causes of tetrahydrobiopterin deficiency can be from mutations of several genes including GCH1, PCBD1, PTS, and QDPR. Tetrahydrobiopterin deficiency is an inherited condition in an autosomal resessive pattern.
Cleidocranial dysplasia is a genetic condition. Cleidocranial dysplasia is also referred to as cleidocranial dysostosis and cleidocranial dysostosis. Cleidocranial dysplasia primarily affects bone and teeth development. Symptoms and signs may vary widely with severity. The RUNX2 is the gene that is related to cleidocranial dysplasia. Cleidocranial dysplasia is an autosomal dominant pattern inherited condition.
Epidermolysis Bullosa (EB)
Epidermolysis bullosa (EB) is a group of inherited diseases characterized by skin blistering, erosion, and fragility. EB affects eight of 1 million Americans. There is no cure for EB, and the only treatment is supportive care.
Malignant hyperthermia is a severe reaction to certain drugs that are often used during invasive procedures or surgery. Certain mutations in genes increase the risk of a person having malignant hyperthermia. Without prompt treatment, the complications of malignant hyperthermia can be life-threatening.
Methemoglobinemia (Beta-Globin Type)
Methemoglobinemia (beta-globin type) is an inherited genetic disorder characterized by an atypical form of hemoglobin that is unable to deliver oxygen efficiently. The main symptom of methemoglobinemia is a bluish appearance of the skin. Mutations in the HBB gene cause the disorder
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the disease include developmental delays, loss of muscle tone, enlargement of the head, and severe feeding problems. The disease is most prevalent in the Ashkenazi Jewish population. There is no treatment for the disease.
Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks (developed between the ages of 3 and 6 months); poikiloderma; sparse hair, eyebrows, and eyelashes; slow growth, teeth and nail abnormalities, infancy gastrointestinal problems, cataracts, skeletal abnormalities, bone and skin cancer. Mutations of the RECQL4 gene causes about two-thirds of the cases of Rothmund-Thomson syndrome. This syndrome is an inherited autosomal recessive pattern genetic mutation. Other names for Rothmund-Thomson syndrome include: congenital poikiloderma, poikiloderma atrophicans and cataract, poikiloderma congenitale, poikiloderma congenitale of Rothmund-Thomson, and RTS.
Color blindness is a condition where a person does not see colors in the usual way. Color blindness is a genetic condition that affects 1 out of every 10 men to some degree. Colorblindness rarely occurs in women. The condition cannot be treated or corrected.
Alkaptonuria is a condition that causes urine to turn black when exposed to air. Alkaptonuria is inherited, and usually appears after 30 years of age. Kidney stones, heart problems, arthritis, and prostate stones are also conditions associated with alkaptonuria.
What Causes Down Syndrome?
Down syndrome is a genetic disorder caused by abnormal cell division resulting in chromosomal abnormality. Abnormalities include an extra full or partial copy of chromosome 21. This genetic abnormality leads to developmental and physical changes that are characteristic of Down syndrome.
Genetic Testing: Families With Breast Cancer
Breast cancer can be a killer and the decision to get tested to see if a patient is prone to the disease should be discussed with a doctor -- particularly if the woman has a history of breast cancer in her family. Genetic testing can only tell so much about breast cancer risk, however.
How Can You Tell if Your Child Has Down Syndrome?
Down syndrome affects many families every year. How Down syndrome may display in each child can depend on individual factors, including what type of Down syndrome the child has. Learn the signs of Down syndrome, what causes it, and available treatments if you believe your child may have it.
How Is a Person's Life Affected By Cystic Fibrosis?
How long can you live with cystic fibrosis? Learn the signs of cystic fibrosis and what to do if someone you know has cystic fibrosis.
What Causes Fragile X Syndrome?
Fragile X syndrome (FXS) is a genetic disorder. It is passed down from parents to their children. A genetic disorder means the genes of either parent are faulty. Kids with FXS exhibit developmental delays, delayed milestones, poor intellect and mental retardation.
How Many Types of Muscular Dystrophy Are There?
Muscular dystrophy is a genetic disease that weakens and wastes away skeletal muscle. There are 30 different types of muscular dystrophy that fall into nine major categories. Learn what the symptoms of muscular dystrophy are, how you get muscular dystrophy, and what treatments there are for muscular dystrophy.
Treatment & Diagnosis
- Depression FAQs
- Breast Cancer FAQs
- Blood and Bleeding Disorders FAQs
- Alzheimers Disease FAQs
- Genetics Information Online
- Kiss of Death Growth Disorder (Ubiquitin)
- Family Medical History Fumbled
- Colon Cancer, The Genetic Factor
- Acquired Methemoglobinemia
- Angelina Jolie's Mastectomy
- Noonan Syndrome Diagnosis
- Down Syndrome Causes and Symptoms
- Sickle Trait and Sickle Cell Disease
Medications & Supplements
- interferon gamma 1b - injection, Actimmune
- penicillamine (Cuprimine, Depen)
- Sogroya (somapacitan-beco)
- Trikafta (elexacaftor/tezacaftor/ivacaftor)
- Mycapssa (octreotide)
- Austedo (deutetrabenazine)
- Cerdelga (eliglustat)
- Orkambi (lumacaftor and ivacaftor)
- Zokinvy (lonafarnib)
- Naglazyme (galsulfase)
- Galafold (migalastat)
Prevention & Wellness
- Scientists Move Closer to Mapping Entire Human Genome
- CRISPR Used Inside Person's Body For First Time
- How 'Stranger Things' Widened Awareness of a Rare Disorder
- Gene Therapy May Be Long-Term Cure for Type of Hemophilia
- Givlaari Approved for Acute Hepatic Porphyria
- 'Don't Give Up:' Parents' Intuition Spots a Rare Illness Before Doctors Do
- Drug Trio Could Give Patients With Cystic Fibrosis a New Option
- New Database Shows 'Rare' Diseases Are Not So Rare Worldwide
- FDA Approves New Drug for Most Common Form of Cystic Fibrosis
- For Kids With Genetic Condition, Statins May Be Lifesavers
- For This Mom, Rare Bone Disease Is a Family Affair
- Smoking May Interfere With 'Embolization' Lung Treatment
- Trial Tests CRISPR Gene-Editing to Treat Sickle Cell Disease
- First U.S. Trial Using CRISPR Within the Body Is Set to Begin
- FDA Expands Cystic Fibrosis Treatment Approval to Children Ages 6 to 12
- New Drug Combats Leading Cause of Dwarfism
- Gene Therapy Might Prove a Cure for 'Bubble Boy' Disease
- Poverty Could Leave Its Mark on Genes
- Health Tip: Understanding Cystic Fibrosis
- Scientists May Have Made Significant Advance in Adult Gene Editing
- Nature or Nurture? Twins Study Helps Sort Out Genes' Role in Disease
- AI Technology Detects Genetic Diseases Using Facial Photos
- Experts Outline Down Syndrome's Developmental Milestones
- Decoding Newborn's DNA Could Pinpoint Hidden Risks
- Genetic Changes Tied to Rare Brain Bleeds in Babies
- New Law Boosts Fight Against Sickle Cell Disease
- Approach That New Gene Testing Kit With Caution
- China Stops Work on Gene-Edited Babies
- Health Tip: Considering Genetic Testing For Cancer?
- Genes, Not Diet, May Be Key to Gout Flare-Ups
- Babies of Opioid-Addicted Moms May Struggle in School
- Americans Say Editing Baby's Genes OK, Up to a Point: Poll
- New Hope Against Disease That Prematurely Ages Children
- Major Project Completes Genetic 'Map' of 33 Cancers
- Genetic Heart Defects Rarely the Cause of SIDS, Research Shows
- First Monkeys Cloned From Process That Created 'Dolly' the Sheep
- New Gene Therapy May Be Cure for 'Bubble Boy' Disease
- Knowing Too Much About Your Genes Might Be Risky
- Do I Know Ewe?
- Health Tip: Considering Genetic Testing
- Geneticists Repair Mutation in Human Embryo
- British Baby With Genetic Disease Dies After Long Legal Battle Over His Care
- Gene Sequencing May Reveal Risks for Rare Diseases
- Cystic Fibrosis Survival Better in Canada Than in U.S.
- Genes Plus Erratic Sleep May Raise Odds for Obesity
- Weight Loss May Ease Psoriasis Symptoms, Study Finds
- FDA OKs 1st Drug to Treat Duchenne Muscular Dystrophy
- Genes Might Explain Hispanics' Added Longevity
- Family Lifestyles May Be as Important to Health as Genes
- New Test Helps Identify Rare Genetic Diseases in Newborns
- Review Finds Mixed Success With Hemophilia Treatment
- Genetic Tests May Not Change People's Unhealthy Ways
- Cystic Fibrosis Drug Seems OK for Preschoolers: Study
- 1 in 3 Colon Cancers in Young People Has Genetic Link
- Cystic Fibrosis Might Be Deadlier for Hispanics, Study Suggests
- Fetal DNA Test May Also Help Spot Mom's Cancer, Study Finds
- Gene Testing Can Be Flawed, Study Finds
- Combo Treatment for Cystic Fibrosis Shows Promise
- Gene Therapy Shows Promise for Rare Immune Disorder
- 6 in 10 Americans Interested in Genetic Testing, Survey Finds
- New Parents Favor In-Depth Genetic Testing, Survey Finds
- Many U.S. Doctors Wary of Genetic Testing: Survey
- Gene Scan Helps Diagnose Mystery Disorders in Children
- Better-Informed Women Order Fewer Prenatal Gene Tests, Study Finds
- Ruconest Approved for Rare Genetic Disease
- Study Targets Causes of Birth Defects
- Viagra, Cialis May Help Duchenne Muscular Dystrophy Patients
- Whole-Genome Scans Not Quite Ready for Widespread Use: Study
- Tretten Approved for Genetic Clotting Disorder
- Most Americans Want Doctors' Help With Gene Test Results: Study
- Scientists Use HIV to 'Cure' 2 Rare Genetic Diseases
- New Guidelines Issued for Genetic Screening in Newborns, Children
- Your Genetic Secrets May Not Be as Safe as You Think
- Kidneys Sometimes Removed Needlessly in Patients With Rare Genetic Disorder
- Genetic Disorder Test for Newborns May Speed Up Diagnoses
- Skinny Genes: Could Heredity Raise Your Vulnerability to 'Be-Thin' Pressure?
- More Than Half of Severe Mental Disability Cases Not Inherited: Study
- Genetics Breakthrough Changes Thinking About DNA
- Scientists Inch Closer to Genetic Blueprint of Diseases
- Could Internet Addiction Be Genetic?
- Ancient Genome Appears to Have Links to Modern Humans
- Afinitor Disperz Approved for Rare Pediatric Cancer
- Close Relative's Early Death May Raise Your Heart Risk: Study
- Fainting Might Run in Families, Twin Study Finds
- Genetic Research Sheds Light on Jewish Diaspora
- Experimental Chemical Helps Blind Mice See
- Newborn Screening May Miss Adrenal-Gland Disorder
- Blood Test May Spot Genetic Disease in Fetuses
- Brave New World of Genetics Requires Safeguards, Experts Say
- Scientists Identify Gene Behind Pygmies' Short Stature
- Research Gets Closer to Genetic Roots of Glaucoma
- Researchers Find Genes Linked to Aggressive Prostate Cancer
- Gene Mapping for Healthy People No 'Crystal Ball'
- Genes May Hold the Key to Aging Skin
- Gene Mutations Linked to Crohn's Disease in Ashkenazi Jews
- Experimental Drug Offers Hope for Rare Bone Disease: Study
- Some Men May Inherit a Higher Risk of Heart Disease From Dad
- Gleevec Approval Widened to Include Rare Cancer
- Mutations in 2 Genes Linked to Rare Autism-Related Disorder
- Research Sheds Light on Gene Mutation's Role in Rare Tumors
- Low Iron Levels May Increase Blood Clot Risk
- Family Tree May Affect Diagnosis Age in Some Breast Cancers
- Cystic Fibrosis Drug a Game Changer?
- Smoking's Effect on Lungs Similar to Cystic Fibrosis: Study
- Family History Has Complex Role in Alzheimer's Risk
- If You Have Body Odor, It May Be in Your Genes
- What Face Transplants Can, Can't Do
- HPV Viruses Linked to Skin Cancer
- Most U.S. Newborns Now Screened for Genetic Disease