Genetic Disease Related Diseases & Conditions
Medical conditions are often related to other diseases and conditions. Our doctors have compiled a list of ailments related to the topic of Genetic Disease. These conditions may be a cause or symptom of Genetic Disease or be a condition for which you may be at increased risk.
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Anemia
Anemia is the condition of having less than the normal number of red blood cells or less than the normal quantity of hemoglobin...learn more »
In This Article
Anemia Article
- Anemia facts*
- What is anemia?
- What causes anemia?
- Can inadequate iron cause anemia?
- What about acute (sudden) blood loss as a cause of anemia?
- What are other causes of anemia?
- Can anemia be hereditary?
- What are the symptoms of anemia?
- How is anemia diagnosed?
- What is a complete blood cell (CBC) count?
- How is blood collected for a complete blood cell (CBC)?
- What is the red blood cell (RBC) count?
- What is hemoglobin?
- What does a low hemoglobin level mean?
- What is the hematocrit?
- How is hematocrit determined?
- How is anemia treated?
- What are the complications of anemia?
- What is the outlook (prognosis) for anemia?
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In This Article
Diabetes (Type 1 and Type 2) Article
- Diabetes facts
- What is diabetes?
- What is the impact of diabetes?
- What causes diabetes?
- What are the different types of diabetes?
- Type 1 diabetes
- Type 2 diabetes
- Other types of diabetes
- What are diabetes symptoms?
- How is diabetes diagnosed?
- Why is blood sugar checked at home?
- What are the acute complications of diabetes?
- What are the chronic complications of diabetes?
- What can be done to slow diabetes complications?
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Parkinson's Disease
Parkinson's disease is a slowly progressive neurologic disease characterized by a fixed inexpressive face, a tremor at rest,...learn more »
In This Article
Parkinson's Disease Article
- What is Parkinson's disease?
- What causes Parkinson's disease?
- What genes are linked to Parkinson's disease?
- Who is at risk for Parkinson's disease?
- What are the symptoms of Parkinson's disease?
- What other conditions resemble Parkinson's disease?
- How is Parkinson's disease diagnosed?
- What is the treatment for Parkinson's disease?
- How can people learn to cope with Parkinson's disease?
- Can Parkinson's disease be prevented?
- What is the prognosis for Parkinson's disease?
- Parkinson's Disease At A Glance
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Allergy
An allergy refers to a misguided reaction by our immune system in response to bodily contact with certain foreign substances. ...learn more »
In This Article
Allergy Article
- Allergy facts
- What does an allergy mean?
- What causes allergies?
- Who is at risk and why?
- What are common allergic conditions, and what are allergy symptoms and signs?
- Hay Fever
- Asthma
- Allergic Eyes
- Allergic Eczema
- Hives
- Allergic Shock
- Where are allergens? Everywhere
- In the air we breathe
- In what we ingest
- Touching our skin
- Injected into our body
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Breast Cancer
Breast cancer is the most common cancer in women and the second most common cause of cancer death in women in the U.S. Symptoms...learn more »
In This Article
Breast Cancer Article
- Breast cancer facts
- What is breast cancer?
- What are the different types of breast cancer?
- What causes breast cancer?
- What are breast cancer risk factors?
- What are breast cancer symptoms and signs?
- How is breast cancer diagnosed?
- How is breast cancer staging determined?
- What is the treatment for breast cancer?
- What is the prognosis of breast cancer?
- Can breast cancer be prevented?
- What research is being done on breast cancer? Should I participate in a clinical trial?
- I may have breast cancer. What questions should I ask my doctor?
- Is the doctor sure I have breast cancer?
- What type of breast cancer do I have?
- What difference does a precise diagnosis make?
- What has been done to exclude cancer in other areas of the same breast or in my other breast?
- What type of medical team do I need for the most accurate diagnosis?
- Is my family history relevant to my breast cancer diagnosis?
- What other studies should be done on my tissue biopsy?
- How urgent is it that I make decisions and begin treatment?
- Should I stop taking hormone therapy (HT)?
- Even though my breast tumor does not have hormone receptors,
should I take tamoxifen to reduce the risk of a new tumor?
- I have a ductal carcinoma in situ (DCIS), a type of localized
cancer. Why have I been advised to have a mastectomy when other women with invasive cancer have
lumpectomies?
- Should I start chemotherapy before surgery?
- If I am advised to have a mastectomy, what are the risks and
benefits of immediate breast reconstruction?
- Should my lymph nodes be removed?
- What is a sentinel lymph node biopsy and what are its benefits and risks?
- Are there any other questions I should ask my doctor?
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Pernicious Anemia
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...learn more »
In This Article
Pernicious Anemia Article
- What is pernicious anemia?
- What is megaloblastic anemia?
- What causes pernicious anemia?
- Is pernicious anemia the same as vitamin B-12 deficiency anemia?
- What are the symptoms of vitamin B-12 deficiency/pernicious anemia?
- How is pernicious anemia/vitamin B-12 deficiency diagnosed?
- What is the treatment for pernicious anemia/vitamin B-12 deficiency?
- Can pernicious anemia/ vitamin B-12 deficiency be prevented?
- What is the prognosis for pernicious anemia/ vitamin B-12 deficiency?
- Pernicious Anemia At A Glance
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In This Article
Deep Vein Thrombosis (DVT) Article
- Introduction to deep vein thrombosis
- What are the causes of deep vein thrombosis?
- What are the symptoms of deep vein thrombosis?
- When should I seek medical care for deep vein thrombosis?
- How is deep vein thrombosis diagnosed?
- What is the treatment for deep vein thrombosis?
- What are the complications of deep vein thrombosis?
- Can deep vein thrombosis be prevented?
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Hydrocephalus
Hydrocephalus is an abnormal buildup of cerebrospinal fluid (CSF) in the ventricles of the brain. The fluid is often under...learn more »
In This Article
Hydrocephalus Article
- Hydrocephalus facts
- What is hydrocephalus?
- What are the different types of hydrocephalus?
- Who gets this hydrocephalus?
- What causes hydrocephalus?
- What are the symptoms and signs of hydrocephalus?
- How is hydrocephalus diagnosed?
- What is the current treatment for hydrocephalus?
- What are the possible complications of a shunt system?
- What is the prognosis for hydrocephalus?
- What research is being done on hydrocephalus?
- Where can I get more information about hydrocephalus?
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Miscarriage
A miscarriage is any pregnancy that ends spontaneously before the fetus can survive. Miscarriage usually occurs before the 13th...learn more »
In This Article
Miscarriage Article
- What is a miscarriage?
- What causes a miscarriage, and what are the tests for the different causes?
- What does NOT cause miscarriage?
- Are there lifestyle factors associated with miscarriage?
- What are the symptoms of a miscarriage?
- What will the doctor look for during an examination with suspected
miscarriage?
- How is threatened abortion evaluated?
- What are common terms a woman might hear during evaluation for miscarriage?
- What treatment can a woman expect when she has had a miscarriage?
- When should a woman receive evaluation for underlying causes of pregnancy
loss?
- Can something be done to prevent future miscarriages?
- Miscarriage At A Glance
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Cholesterol
Cholesterol is naturally produced by the body, and is a building block for cell membranes and hormones. Low-density lipoprotein...learn more »
In This Article
Cholesterol Article
- Cholesterol facts
- What is cholesterol?
- What are LDL and HDL cholesterol?
- What determines the level of LDL cholesterol in the blood?
- Does lowering LDL cholesterol prevent heart attacks and strokes?
- How can LDL cholesterol levels be lowered?
- What are the current NCEP cholesterol treatment guidelines?
- Why is HDL the good cholesterol?
- What are triglycerides and VLDL?
- What medications are available to lower cholesterol,
lipids, and triglycerides?
- Is lowering LDL cholesterol enough?
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Cystic Fibrosis
Cystic fibrosis is a disease of the mucus and sweat glands. Cystic fibrosis is an inherited disease. The outcome of the disease...learn more »
In This Article
Cystic Fibrosis Article
- Cystic fibrosis facts*
- What is cystic fibrosis?
- What are other names for cystic fibrosis?
- What causes cystic fibrosis?
- Is cystic fibrosis inherited?
- Who is at risk for cystic fibrosis?
- What are the signs and symptoms of cystic fibrosis?
- How is cystic fibrosis diagnosed?
- How is cystic fibrosis treated?
- Living with cystic fibrosis
- What is the outlook for cystic fibrosis?
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Depression
Depression is an illness that involves the body, mood, and thoughts and affects the way a person eats and sleeps, the way one...learn more »
In This Article
Depression Article
- Depression facts
- What is a depressive disorder?
- What are myths about depression?
- What are the types of depression, and what are depression symptoms and signs?
- Depression symptoms and signs in men
- Depression symptoms and signs in women
- Depression symptoms and signs in teenagers
- Depression symptoms and signs in children
- What are the causes and risk factors of depression?
- Postpartum depression
- How is depression diagnosed?
- What treatments are available for depression?
- What is the general approach to treating depression?
- What about sexual dysfunction related to antidepressants?
- What about discontinuing antidepressants?
- What are complications of depression?
- What is the prognosis for depression?
- How can depression be prevented?
- What about self-help and home remedies?
- How can someone help a person who is depressed?
- Where can one seek help for depression?
- What is in the future for depression?
- Where can people find more information about depression?
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Down Syndrome
Down syndrome is a chromosomal disorder that results in the presence of an additional third chromosome 21, also referred to as...learn more »
In This Article
Down Syndrome Article
- What is Down syndrome?
- What are the chromosome basics of Down syndrome?
- How do the extra genes lead to Down syndrome?
- What are the risk factors for conceiving a child with Down syndrome?
- What are the characteristic features and symptoms of Down syndrome?
- What type of prenatal screening is available for Down syndrome?
- How is the diagnosis of Down syndrome made?
- What about cognitive impairment in Down syndrome?
- What other conditions are associated with Down syndrome?
- How is Down syndrome managed?
- What about early intervention and education for Down syndrome?
- What are the needs of infants and preschool children with Down syndrome?
- How do adolescents with Down syndrome develop?
- What should one expect for adults with Down syndrome?
- Do individuals with Down syndrome work?
- Where can I find clinical trials for Down syndrome?
- Down Syndrome At A Glance
- Where can I find more information about Down syndrome?
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In This Article
Huntington's Disease Article
- Introduction to Huntington's disease
- What causes Huntington's disease?
- How is Huntington's disease inherited?
- What are the symptoms and major effects of Huntington's disease?
- At what age does Huntington's disease appear?
- How is Huntington's disease diagnosed?
- What is presymptomatic testing?
- How is the presymptomatic test conducted?
- How does a person decide whether to be tested?
- Is there a treatment for Huntington's disease?
- What kind of care does an individual with Huntington's disease need?
- What community resources are available for Huntington's disease?
- What research is being done on Huntington's disease?
- How can I help?
- What is the role of voluntary organizations?
- Where can I get more information about Huntington's disease?
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In This Article
Connective Tissue Disease Article
- What is a connective tissue disease?
- What causes connective tissue disease?
- What are symptoms and signs of a connective tissue disease?
- How are connective tissue diseases diagnosed?
- What are genetic risk factors for developing connective tissue disease?
- What autoimmune diseases are associated with connective tissue disease?
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Myasthenia Gravis
Myasthenia gravis, a chronic autoimmune neuromuscular disease. Varying degrees of weakness of the voluntary muscles of the body...learn more »
In This Article
Myasthenia Gravis Article
- Myasthenia gravis facts*
- What is myasthenia gravis?
- What causes myasthenia gravis?
- What is the role of the thymus gland in myasthenia gravis?
- What are the symptoms of myasthenia gravis?
- Who gets myasthenia gravis?
- How is myasthenia gravis diagnosed?
- How is myasthenia gravis treated?
- What are myasthenic crises?
- What is the prognosis?
- What research is being done?
- Where can I get more information?
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Atopic Dermatitis
Eczema is a general term for many types dermatitis (skin inflammation). Atopic dermatitis is the most common of the many types of...learn more »
In This Article
Atopic Dermatitis Article
- Atopic dermatitis facts
- What is atopic dermatitis?
- What is the difference between atopic dermatitis and eczema?
- How common is atopic dermatitis?
- What causes atopic dermatitis?
- Is atopic dermatitis contagious?
- What are atopic dermatitis symptoms and signs?
- Can atopic dermatitis affect the face?
- What are the stages of atopic dermatitis?
- How is atopic dermatitis diagnosed?
- What factors can aggravate atopic dermatitis?
- What are skin irritants in patients with atopic dermatitis?
- What are allergens?
- What are aeroallergens?
- What is the treatment for atopic dermatitis?
- What is the hope for long-term management of atopic
dermatitis?
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Marfan Syndrome
Marfan syndrome is hereditary condition affecting connective tissue. A person with Marfan syndrome may exhibit the following...learn more »
In This Article
Marfan Syndrome Article
- Marfan syndrome facts*
- What is Marfan syndrome?
- What are the symptoms of Marfan syndrome?
- What causes Marfan syndrome?
- How is Marfan syndrome diagnosed?
- What types of doctors treat Marfan syndrome?
- What treatment options are available for Marfan syndrome?
- What are some of the emotional and psychological effects of Marfan syndrome?
- What research is being conducted on Marfan syndrome?
- Where can people find additional information about Marfan syndrome?
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Bipolar Disorder
Bipolar disorder (or manic depression) is a mental illness characterized by depression, mania, and severe mood swings. Treatment...learn more »
In This Article
Bipolar Disorder Article
- Bipolar disorder facts
- What is bipolar disorder?
- What is the history of bipolar disorder?
- What are the types of bipolar disorder?
- What are bipolar disorder causes and risk factors?
- What are bipolar disorder symptoms and signs in adults, teenagers, and children?
- How is bipolar disorder diagnosed?
- What illnesses often coexist with bipolar disorder?
- What are bipolar disorder medications and other treatments? Are there any home remedies or alternative treatments for bipolar disorder?
- How is bipolar disorder treated during pregnancy and the postpartum period?
- What are complications and prognosis/effects over time of bipolar disorder?
- Can bipolar disorder be prevented?
- Where can people find more information about bipolar disorder?
- Where can people find support to help them cope with bipolar disorder?
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In This Article
Ehlers-Danlos Syndrome Article
- What is Ehlers-Danlos syndrome?
- What are the types of Ehlers-Danlos syndromes?
- How is Ehlers-Danlos diagnosed?
- How are Ehlers-Danlos syndromes treated?
- Ehlers-Danlos At A Glance
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Tourette Syndrome
Tourette syndrome is disorder, which symptoms include involuntary facial tics, motor tics, and vocal tics. The cause of Tourette...learn more »
In This Article
Tourette Syndrome Article
- What is Tourette syndrome?
- What are the symptoms of Tourette syndrome?
- What is the course of Tourette syndrome?
- Can people with Tourette syndrome control their tics?
- What causes Tourette syndrome?
- What disorders are associated with Tourette syndrome?
- How is Tourette syndrome diagnosed?
- How is Tourette syndrome treated?
- Is Tourette syndrome inherited?
- What is the prognosis for Tourette syndrome?
- What is the best educational setting for children with Tourette syndrome?
- What research is being done for Tourette syndrome?
- Where can I get more information about Tourette syndrome?
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Hay Fever
Hay fever (allergic rhinitis) is an irritation of the nose caused by pollen and is associated with the following allergic...learn more »
In This Article
Hay Fever Article
- What is hay fever? What are the symptoms and signs?
- Why does an allergic reaction occur?
- What causes allergic rhinitis?
- When and where does allergic rhinitis occur?
- How is allergic rhinitis diagnosed, and how are allergies identified?
- How are allergies treated?
- Hay Fever At A Glance
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Graves' Disease
Graves' disease is an autoimmune disease that affects the thyroid. Some of the symptoms of Graves' disease include hand tremors,...learn more »
In This Article
Graves' Disease Article
- Graves' disease facts*
- What is Graves' disease?
- What are the symptoms of Graves' disease?
- Who gets Graves' disease?
- What causes Graves' disease?
- How do I find out if I have Graves' disease?
- How is Graves' disease treated?
- What could happen if Graves' disease is not treated?
- Does pregnancy affect the thyroid?
- Do I need a thyroid test if I become pregnant?
- I have Graves' disease and want to have a baby. What should I do before I
try to become pregnant?
- How is Graves' disease managed during pregnancy?
- Can I breastfeed if I am taking antithyroid medicine for Graves' disease?
- For more information about Graves' disease
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In This Article
Learning Disabilities Article
- What are learning disabilities?
- How common are learning disabilities?
- What are the signs of a learning disability?
- What about school and learning disabilities?
- Tips for parents of children with learning disabilities
- Tips for teachers of children with learning disabilities
- Is there any treatment for learning disabilities?
- What is the prognosis for learning disabilities?
- What research is being done for learning disabilities?
- For more information
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In This Article
Wolff-Parkinson-White Syndrome Article
- What is Wolff-Parkinson-White syndrome?
- What are the symptoms of Wolff-Parkinson-White syndrome
- What are the complications of Wolff-Parkinson-White syndrome?
- What other heart conditions is Wolff-Parkinson-White syndrome associated with?
- How common is Wolff-Parkinson-White syndrome?
- What genes are related to Wolff-Parkinson-White syndrome?
- How do people inherit Wolff-Parkinson-White syndrome?
- Where can I find information about treatment for Wolff-Parkinson-White syndrome?
- What other names do people use for Wolff-Parkinson-White syndrome?
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In This Article
Mitochondrial Disease Article
- What is mitochondrial myopathies?
- Is there any treatment for mitochondrial disease?
- What is the prognosis for mitochondrial disease?
- What research is being done for mitochondrial disease?
- Organizations
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G6PD Deficiency
G6PD deficiency (Glucose 6-phosphate dehydrogenase) leads to a condition called hemolytic anemia. Causes of G6PD deficiency is an...learn more »
In This Article
G6PD Deficiency Article
- What is glucose-6-phosphate dehydrogenase deficiency?
- How common is glucose-6-phosphate dehydrogenase deficiency?
- What genes are related to glucose-6-phosphate dehydrogenase deficiency?
- How do people inherit glucose-6-phosphate dehydrogenase deficiency?
- What other names do people use for glucose-6-phosphate dehydrogenase deficiency?
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Phenylketonuria
Phenylketonuria (PKU) is a disorder that is inherited. PKU disorder increases the levels of phenylalanine in the blood....learn more »
In This Article
Phenylketonuria Article
- What is phenylketonuria (PKU)?
- What are the symptoms of phenylketonuria?
- How common is phenylketonuria?
- What genes are related to phenylketonuria?
- How do people inherit phenylketonuria?
- What other names do people use for phenylketonuria?
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In This Article
Polycystic Kidney Disease Article
- What is Polycystic Kidney Disease?
- What is autosomal dominant PKD?
- What are the symptoms of autosomal dominant PKD?
- How is autosomal dominant PKD diagnosed?
- How is autosomal dominant PKD treated?
- What is autosomal recessive PKD?
- What are the symptoms of autosomal recessive PKD?
- How is autosomal recessive PKD diagnosed?
- How is autosomal recessive PKD treated?
- What is a genetic disease?
- Hope through research
- Polycystic Kidney Disease At A Glance
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Diabetes Insipidus
Diabetes insipidus is a condition in which the patient has frequent urination. Symptoms of diabetes insipidus include irritable,...learn more »
In This Article
Diabetes Insipidus Article
- Diabetes insipidus facts*
- What is diabetes insipidus, and what are the symptoms of the condition?
- What is the difference between diabetes insipidus and diabetes mellitus?
- How is fluid in the body normally regulated?
- What are the types of diabetes insipidus?
- How is diabetes insipidus diagnosed?
- For more information about diabetes insipidus
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Turner Syndrome
Turner syndrome is an inherited chromosomal condition affecting women. Women with Turner syndrome do not have ovarian function,...learn more »
In This Article
Turner Syndrome Article
- What is Turner syndrome?
- What are the symptoms of Turner syndrome?
- How is Turner syndrome diagnosed?
- What is the treatment for Turner syndrome?
- Is Turner syndrome inherited?
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Beta Thalassemia
Beta Thalassemia is the most familiar type of thalassemia. Thalassemia is not just one disease but rather a complex series of...learn more »
In This Article
Beta Thalassemia Article
- What are the thalassemias?
- What is beta thalassemia?
- What is the difference between thalassemia minor and major?
- What is Mediterranean anemia?
- What is the genetic pattern of inheritance of beta thalassemia?
- The diagnosis of thalassemia major and minor
- The treatment of thalassemia major
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In This Article
Sickle Cell Disease (Sickle Cell Anemia) Article
- What is sickle cell anemia?
- How is sickle cell anemia inherited?
- What conditions promote the sickling (distortion) of the red blood cells in sickle cell anemia?
- How is sickle cell anemia diagnosed?
- What are the symptoms and treatments of sickle cell anemia?
- What is the outlook (prognosis) for patients with sickle cell anemia?
- Sickle Cell Anemia At A Glance
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Cerebral Palsy
Cerebral palsy (CP) is an abnormality of motor function and postural tone acquired at an early age (even before birth). Cerebral...learn more »
In This Article
Cerebral Palsy Article
- Cerebral palsy facts
- What is cerebral palsy?
- What are causes of cerebral palsy?
- What are symptoms and signs of cerebral palsy?
- What are the types of cerebral palsy?
- What is spastic cerebral palsy?
- What is dyskinetic cerebral palsy?
- What is ataxic cerebral palsy?
- What is dystonic cerebral palsy?
- What is choreoathetoid cerebral palsy?
- What is hypotonic cerebral palsy?
- What is mixed cerebral palsy?
- What other conditions are associated with cerebral palsy?
- How is a child evaluated for cerebral palsy?
- How is cerebral palsy treated?
- What are specific treatment plans for cerebral palsy?
- What is the long-term outlook for patients with cerebral palsy?
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In This Article
Amyotrophic Lateral Sclerosis (ALS) Article
- Amyotrophic lateral sclerosis facts*
- What is amyotrophic lateral sclerosis?
- Who gets ALS?
- What are the symptoms of ALS?
- How is ALS diagnosed?
- What causes ALS?
- How is ALS treated?
- What research is being done on ALS?
- How can I help research for ALS?
- Where can I get more information about ALS?
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In This Article
Asperger's Syndrome (Asperger Syndrome, Asperger Disorder) Article
- Asperger's syndrome facts
- What is Asperger's syndrome?
- What causes Asperger's syndrome?
- How common is Asperger's syndrome?
- What are the signs and symptoms of Asperger's syndrome?
- How is Asperger's syndrome diagnosed?
- What are the risks or complications of Asperger's syndrome?
- What are the treatments for Asperger's syndrome?
- What is the prognosis for Asperger's syndrome?
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Moles
Moles are small skin growths that may appear flat or raised and are often tan, brown, black, reddish brown, or skin colored. They...learn more »
In This Article
Moles Article
- Moles facts
- What are moles?
- What
causes moles, and what are risk factors for developing moles?
- What types of moles are there?
- What are liver spots or age spots?
- What are seborrheic keratoses?
- Who is more prone to getting moles?
- Does having more moles increase my chance of getting melanoma?
- Do moles ever disappear spontaneously?
- Which skin cancers look like moles?
- How can moles be prevented?
- How can moles be treated? What are different types of mole removal?
- Is there a blood test or X-ray to diagnose moles?
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In This Article
Macular Degeneration Article
- Macular degeneration facts
- What is macular degeneration?
- What is the retina?
- What is the macula?
- What is age-related macular degeneration (AMD)?
- What is wet age-related macular degeneration?
- What are retinal drusen?
- What is dry age-related macular degeneration?
- What causes macular degeneration?
- What are risk factors for macular degeneration?
- What are macular degeneration symptoms?
- What are signs of macular degeneration?
- How is macular degeneration diagnosed?
- What is the treatment for wet macular degeneration?
- What is the treatment for dry macular degeneration?
- What are complications of macular degeneration?
- What is the prognosis for macular degeneration?
- Can macular degeneration be prevented?
- What research is being done on macular degeneration?
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Trisomy 18
Trisomy 18 is an chromosomal condition that causes severe birth defects in newborns. Many babies born with trisomy 18 do not live...learn more »
In This Article
Trisomy 18 Article
- Trisomy 18 facts
- What is trisomy 18?
- What are the chromosome basics of trisomy 18?
- What are the characteristic signs and symptoms of trisomy 18?
- How common is trisomy 18?
- How is trisomy 18 diagnosed?
- Can people with trisomy 18 survive to adulthood?
- Is there any treatment for trisomy 18?
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Angelman Syndrome
Angelman syndrome is a genetic disorder that results from the absence of a functional copy of the UBE3A gene inherited from the...learn more »
In This Article
Angelman Syndrome Article
- Angelman syndrome facts*
- What is Angelman syndrome?
- What are the characteristics, signs, and symptoms of Angelman syndrome?
- Is there any treatment for Angelman syndrome?
- What is the prognosis for Angelman syndrome?
- What research is being done with Angelman syndrome?
- For more information
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In This Article
Klinefelter Syndrome Article
- What is Klinefelter syndrome?
- What are the symptoms of the XXY condition?
- Physical development
- Language development
- Social development
- What are the treatments for the XXY condition?
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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...learn more »
In This Article
Cancer Risk Factors Article
- What are cancer risk factors?
- Growing older
- Tobacco
- Sunlight
- Ionizing radiation
- Certain chemicals and other substances
- Some viruses and bacteria
- Certain hormones
- Family history of cancer
- Alcohol
- Poor diet, lack of physical activity, or being overweight
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In This Article
Autism Spectrum Disorder (In Children and Adults) Article
- Autism facts
- What is autism?
- How does autism impact the family?
- What are the different types of autism?
- What are the symptoms and signs of autism in children and adults?
- Impairment of social interaction
- Communication
- Behaviors
- What causes autism?
- Is autism genetic?
- Do vaccines play a role in autism?
- How is autism diagnosed in children and adults?
- How is autism treated in children and adults?
- What common sociobehavioral interventions are used to treat autism?
- What are the common medications used to treat the symptoms of autism?
- Can diet and supplements play a role in the treatment of autism?
- What is the prognosis for children and adults with autism?
- For more information about autism in children and adults
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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...learn more »
In This Article
Fragile X Syndrome Article
- Fragile X syndrome facts*
- What is Fragile X syndrome?
- What causes Fragile X syndrome?
- What keeps the FMR1 gene from producing FMRP in Fragile X syndrome?
- Human cells 101
- How many people are affected by Fragile X syndrome?
- How is Fragile X syndrome inherited?
- What are the signs and symptoms of Fragile X syndrome?
- Intelligence and learning
- Physical
- Social and emotional
- Speech and language
- Sensory
- Is there a cure for Fragile X syndrome?
- Are there treatments for Fragile X syndrome?
- Educational options
- Therapeutic options
- Medication options
- What are the options for adults who have Fragile X syndrome?
- What should I do if I find out someone in my family has Fragile X syndrome?
- What is being done to develop treatments or a cure for Fragile X syndrome?
- Where can I go for more information about Fragile X syndrome?
- References
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Birth Defects
Birth defects have many causes and currently, are the leading cause of death for infants in the first year of life. Some of the...learn more »
In This Article
Birth Defects Article
- What are birth defects?
- What causes birth defects?
- What are the different types of birth defects?
- What are the treatments for birth defects?
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Alpha Thalassemia
Alpha thalassemia is a disorder in which the alpha globin protein is underproduced. There are two pairs of genes that carry the...learn more »
In This Article
Alpha Thalassemia Article
- Alpha thalassemia facts*
- What is alpha thalassemia?
- What are the symptoms of alpha thalassemia?
- What are the types of alpha thalassemia?
- How common is alpha thalassemia?
- What genes are related to alpha thalassemia?
- How do people inherit alpha thalassemia?
-
Achondroplasia
A common form of short stature, achondroplasia (dwarfism) is a genetic condition causing a disorder of bone growth. Complications...learn more »
In This Article
Achondroplasia Article
- Achondroplasia facts
- What is achondroplasia?
- What are the characteristics of achondroplasia?
- How is achondroplasia diagnosed?
- What can be done for patients with achondroplasia?
- How is achondroplasia inherited?
- What if someone with achondroplasia has children?
- What if two people with achondroplasia have children?
- What gene causes achondroplasia?
-
In This Article
Prader-Willi Syndrome Article
- What is Prader-Willi syndrome?
- What are the signs, symptoms, and physical features of
Prader-Willi syndrome?
- How common is, and what causes Prader-Willi syndrome?
- Can Prader-Willi syndrome be inherited?
- Where can I find information about treatment for Prader-Willi syndrome?
- Where can I find additional information about Prader-Willi syndrome?
- What other names do people use for Prader-Willi syndrome?
- What if I still have specific questions about Prader-Willi syndrome?
- Where can I find general information about genetic conditions?
- What glossary definitions help with understanding Prader-Willi syndrome?
-
Gilbert Syndrome
Gilbert syndrome is a benign genetic condition that causes abnormal breakdown of bilirubin, a compound that is formed when...learn more »
In This Article
Gilbert Syndrome Article
- What is Gilbert syndrome?
- What causes Gilbert syndrome?
- What are the symptoms of Gilbert syndrome?
- What is the treatment for Gilbert syndrome?
-
In This Article
Spina Bifida and Anencephaly (Neural Tube Defects) Article
- Introduction to spina bifida
- What is spina bifida?
- What are the different types of spina bifida?
- What causes spina bifida?
- What are the signs and symptoms of spina bifida?
- What are the complications of spina bifida?
- How is spina bifida diagnosed?
- How is spina bifida treated?
- Can spina bifida be prevented?
- What is the prognosis for spina bifida?
- What research is being done on spina bifida?
- Where can I get more information?
-
Fabry Disease
Fabry disease (Fabry's disease, alpha-galactosidase-A) is a genetic disorder with symptoms such as burning sensations in the...learn more »
In This Article
Fabry Disease Article
- What is, and what causes Fabry disease?
- What are the symptoms of Fabry disease?
- Is there any treatment for Fabry disease?
- What is the prognosis for Fabry disease?
- What research is being done on Fabry disease?
- For more information
-
Hemophilia
Hemophilia is one of a group of inherited bleeding disorders. Hemophilia A and B are inherited in an X-linked recessive genetic...learn more »
In This Article
Hemophilia Article
- What is hemophilia?
- What causes hemophilia?
- What are the signs and symptoms of hemophilia?
- How is hemophilia diagnosed?
- Is it possible to know if you are a carrier of hemophilia?
- What are treatments for hemophilia?
- What are complications of treatment?
- Inhibitors
- Infections
- Can hemophilia be prevented?
- What is the outlook (prognosis) for hemophilia?
- What are possible future treatments for hemophilia?
- Hemophilia At A Glance
-
In This Article
Hirschsprung's Disease Article
- What is Hirschsprung's disease?
- What are the large intestine, colon, rectum, and anus?
- Why does Hirschsprung's disease cause constipation?
- What causes Hirschsprung's disease?
- What are the symptoms of Hirschsprung's disease?
- How is Hirschsprung's disease
treated?
- What will my child's life be like after surgery?
- If I have more children, will they also have Hirschsprung's disease?
- Hirschsprung's Disease At A Glance
-
In This Article
Alpha-1 Antitrypsin Deficiency Article
- What is alpha-1 antitrypsin deficiency?
- What are the signs and symptoms of lung disease caused by alpha-1 antitrypsin
deficiency?
- How common is alpha-1 antitrypsin deficiency?
- What genes are related to alpha-1 antitrypsin deficiency?
- How do people inherit alpha-1 antitrypsin deficiency?
- Where can I find information about treatment for alpha-1 antitrypsin
deficiency?
- What other names do people use for alpha-1 antitrypsin deficiency?
-
MELAS Syndrome
MELAS syndrome, a rare form of dementia, stands for Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes....learn more »
In This Article
MELAS Syndrome Article
- What is MELAS?
- What causes MELAS?
- What are the symptoms of MELAS?
- How is MELAS diagnosed?
- When do people with MELAS develop symptoms?
- How is MELAS treated?
- Are there other mitochondrial diseases?
-
In This Article
Charcot-Marie-Tooth-Disease Article
- What is Charcot-Marie-Tooth-disease?
- What are the symptoms of Charcot-Marie-Tooth-disease?
- What are the types of Charcot-Marie-Tooth-disease?
- What causes Charcot-Marie-Tooth-disease?
- How is Charcot-Marie-Tooth-disease diagnosed?
- How is Charcot-Marie-Tooth-disease treated?
- What research is being done on Charcot-Marie-Tooth-disease?
-
Pick Disease
Frontotemporal dementia (FTD) is a syndrome that is associated with shrinking of the frontal and temporal lobes of the brain....learn more »
In This Article
Pick Disease Article
- Frontotemporal dementia (Pick's disease) facts*
- What is frontotemporal dementia (Pick's disease)?
- What are the symptoms of frontotemporal dementia?
- Is frontotemporal dementia inherited?
- Is there any treatment for frontotemporal dementia?
- What is the prognosis (the outlook) for frontotemporal dementia?
- What research is being done on frontotemporal dementia?
- Where can I find more information about frontotemporal dementia?
-
Loeys-Dietz Syndrome
Loeys-Dietz syndrome is a syndrome is an inherited genetic syndrome characterized by aortic aneurysms in children. Children with...learn more »
In This Article
Loeys-Dietz Syndrome Article
- What is Loeys-Dietz syndrome?
- What are the signs and symptoms of Loeys-Dietz syndrome?
- Is Loeys-Dietz syndrome inherited?
- What causes Loeys-Dietz syndrome?
- How is Loeys-Dietz syndrome diagnosed?
- How is Loeys-Dietz syndrome treated?
- Loeys-Dietz At A Glance
-
Usher Syndrome
There are three types of Usher (Usher's) syndrome, the most common condition that affects both vision and hearing. The major...learn more »
In This Article
Usher Syndrome Article
- What is Usher syndrome?
- Who is affected by Usher syndrome?
- What causes Usher syndrome?
- What are the characteristics of the three types of Usher syndrome?
- How is Usher syndrome diagnosed?
- Is genetic testing for Usher syndrome available?
- How is Usher syndrome treated?
- What research is being conducted on Usher syndrome?
- What are some of the latest research findings?
-
-
Williams Syndrome
Williams syndrome is a developmental disorder that affects many parts of the body. Features may include intellectual disability,...learn more »
In This Article
Williams Syndrome Article
- Williams syndrome facts*
- What is Williams syndrome?
- How common is Williams syndrome?
- What are the genetic changes related to Williams syndrome?
- Can Williams syndrome be inherited?
- What other names do people use for Williams syndrome?
-
In This Article
Leigh's Disease (Leigh's Syndrome) Article
- What is Leigh's disease (Leigh's syndrome)?
- What causes Leigh's disease?
- What are the symptoms of Leigh's disease?
- Is there any treatment for Leigh's disease?
- Are there other forms of Leigh's disease?
- What is the prognosis for Leigh's disease?
- What research is being done with Leigh's disease?
- Clinical trials for Leigh's disease
- Support for Leigh's disease
-
Hearing Loss
Hearing loss (deafness) may be present at birth or it may manifest later in life. Deafness may be genetic or due to damage from...learn more »
In This Article
Hearing Loss Article
- What are forms of hearing loss?
- What are the types of hearing loss?
- What are the symptoms of hearing loss?
- What is the treatment for hearing loss?
-
Genetic Counseling
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated...learn more »
In This Article
Genetic Counseling Article
- What are genetic professionals and what do they do?
- What is genetic counseling and evaluation?
- How do I find a genetic professional?
- How do I decide whether I need to see a geneticist or other specialist?
-
Hypersomnia
Hypersomnia is a condition where a person has excessive daytime sleepiness and trouble staying awake during the day. Treatment...learn more »
In This Article
Hypersomnia Article
- Introduction to hypersomnia
- What causes hypersomnia?
- How is hypersomnia diagnosed?
- How is hypersomnia treated?
-
In This Article
Fish Odor Syndrome (Trimethylaminuria) Article
- Fish odor syndrome (trimethylaminuria) facts*
- What is fish odor syndrome (trimethylaminuria)?
- What are the signs and symptoms of fish odor syndrome
(trimethylaminuria)?
- What causes fish odor syndrome (trimethylaminuria)?
- How common is fish odor syndrome (trimethylaminuria)?
- What genes are related to fish odor syndrome (trimethylaminuria)?
- How do people inherit fish odor syndrome (trimethylaminuria)?
- Where can I find information about diagnosis, management, or treatment of
fish odor syndrome (trimethylaminuria)?
- Where can I find additional information about fish odor syndrome (trimethylaminuria)?
- What other names do people use for fish odor syndrome (trimethylaminuria)?
- What if I still have specific questions about fish odor syndrome (trimethylaminuria)?
-
In This Article
Gardner's Syndrome (Familial Adenomatous Polyposis) Article
- What is familial adenomatous polyposis?
- How common is familial adenomatous polyposis?
- What genes are related to familial adenomatous
polyposis?
- How do people inherit familial adenomatous polyposis?
- Where can I find information about treatment for
familial adenomatous polyposis?
- What other names do people use for familial adenomatous
polyposis?
-
Porphyria
Porphyria is a group of disorders that affect the nervous system, skin, or both. Porphyria is often an inherited condition that...learn more »
In This Article
Porphyria Article
- Porphyria facts*
- What is porphyria?
- What are the types of porphyria?
- What causes porphyria?
- What are the symptoms of porphyria?
- How is porphyria diagnosed?
- How is porphyria treated?
-
Alkaptonuria
Alkaptonuria is a condition that causes urine to turn black when exposed to air. Alkaptonuria is inherited, and usually appears...learn more »
In This Article
Alkaptonuria Article
- What is alkaptonuria?
- How common is alkaptonuria?
- What genes are related to alkaptonuria?
- How do people inherit alkaptonuria?
- Where can I find information about treatment for alkaptonuria?
- What other names do people use for alkaptonuria?
-
Noonan Syndrome
Noonan syndrome is a genetic disorder that causes birth defects (congenital malformations) such as short stature, caved-in...learn more »
In This Article
Noonan Syndrome Article
- What is Noonan syndrome and what are the signs and
symptoms of this condition?
- How common is Noonan syndrome?
- What genes are related to Noonan syndrome?
- How do people inherit Noonan syndrome?
- Where can I find information about treatment for Noonan syndrome?
- What other names do people use for Noonan syndrome?
-
Canavan Disease
Canavan disease is an inherited genetic disorder that typically causes death before 10 years of age. Signs and symptoms of the...learn more »
In This Article
Canavan Disease Article
- What is Canavan disease?
- What causes Canavan disease?
- What are the symptoms of Canavan disease?
- Is there any treatment for Canavan disease?
- What is the prognosis for Canavan disease?
- What research is being done on Canavan disease?
- For more information
-
In This Article
Klippel-Trenaunay-Weber Syndrome Article
- What is Klippel-Trènaunay-Weber (KTW) syndrome?
- What is a port-wine stain?
- What is asymmetrical limb hypertrophy?
- Are there other abnormalities in Klippel-Trènaunay-Weber
syndrome?
- How is intelligence affected?
- What is the basic defect in Klippel-Trènaunay-Weber
syndrome?
- What causes Klippel-Trènaunay-Weber syndrome?
- What is the prognosis (outlook) with Klippel-Trènaunay-Weber syndrome?
- Why is it called Klippel-Trènaunay-Weber syndrome?
- Alternative names for Klippel-Trènaunay-Weber (KTW) syndrome
-
Pendred Syndrome
Pendred syndrome, a genetic disorder that causes hearing loss. Generally, the hearing loss is affected in early childhood....learn more »
In This Article
Pendred Syndrome Article
- What is Pendred syndrome?
- How does Pendred syndrome affect other parts of the body?
- What causes Pendred syndrome?
- How is Pendred syndrome diagnosed?
- How common is Pendred syndrome?
- Can Pendred syndrome be treated?
- What research is being conducted?
-
Kidney Dysplasia
Kidney dysplasia is a condition in which one or both of a baby's kidneys do not develop normally. In kidney dysplasia, cysts...learn more »
In This Article
Kidney Dysplasia Article
- What is kidney dysplasia?
- How does kidney dysplasia happen?
- What causes kidney dysplasia?
- What are the signs or complications of kidney dysplasia?
- How is kidney dysplasia diagnosed?
- How is kidney dysplasia treated?
- What is the long-term outlook for a child with kidney dysplasia?
- Questions to ask the doctor
- Points to remember
-
In This Article
Parry-Romberg Syndrome Article
- What is and what causes Parry-Romberg syndrome?
- What are the signs and symptoms of Parry-Romberg syndrome?
- At what age does Parry-Romberg syndrome occur?
- Is there any treatment for Parry-Romberg syndrome?
- What is the prognosis for Parry-Romberg syndrome?
- What research is being done for Parry-Romberg syndrome?
-
Gaucher Disease
Gaucher disease is caused by an inherited (genetic) defect in an enzyme glucocerebroside. Signs fo Gaucher disease include...learn more »
In This Article
Gaucher Disease Article
- What is Gaucher Disease?
- How common is Gaucher disease?
- What genes are related to Gaucher disease?
- How do people inherit Gaucher disease?
- Where can I find information about treatment for Gaucher disease?
- What other names do people use for Gaucher disease?
-
In This Article
1p36 Deletion Syndrome Article
- 1p36 deletion syndrome facts
- What is and what causes 1p36 deletion syndrome?
- What are the characteristics, signs, and symptoms of 1p36 deletion
syndrome?
- What is the treatment for 1p36 deletion syndrome?
- What is the prognosis and life expectancy for 1p36 deletion syndrome?
- Conclusion
-
In This Article
Pseudoxanthoma Elasticum Article
- What is pseudoxanthoma elasticum?
- How is pseudoxanthoma elasticum inherited?
- What are symptoms of pseudoxanthoma elasticum?
- What is the treatment for patients with pseudoxanthoma
elasticum?
- Pseudoxanthoma Elasticum At A Glance
-
In This Article
Malignant Hyperthermia Article
- Malignant hyperthermia facts*
- What is malignant hyperthermia?
- How common is
malignant hyperthermia?
- What genes are
related to malignant hyperthermia?
- How do people
inherit malignant hyperthermia?
- Where can I find information about diagnosis,
management, or treatment of malignant hyperthermia?
- What other names do people use for malignant hyperthermia?
-
Color Blindness
Color blindness is a condition where a person does not see colors in the usual way. Color blindness is a genetic condition that...learn more »
In This Article
Color Blindness Article
- Introduction to color blindness
- How does the eye normally see colors?
- What is color blindness?
- What causes color blindness?
- Does color blindness cause other health problems?
-
Pycnodysostosis
Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are...learn more »
In This Article
Pycnodysostosis Article
- What is pycnodysostosis?
- What is basis for the name of this disease?
- What are the characteristics of pycnodysostosis?
- How is pycnodysostosis inherited?
- What are the risks of pycnodysostosis?
- What is the molecular story with pycnodysostosis?
- Could there be a connection between pycnodysostosis and
osteoporosis?
- What is the treatment for pycnodysostosis?
- Pycnodysostosis At A Glance
-
In This Article
Hutchinson-Gilford Progeria Syndrome Article
- Hutchinson-Gilford progeria syndrome facts*
- What is Hutchinson-Gilford progeria syndrome?
- What are the characteristics, signs, and symptoms of Hutchinson-Gilford
progeria syndrome?
- How common is Hutchinson-Gilford progeria syndrome?
- What genes are related to Hutchinson-Gilford progeria syndrome?
- How do people inherit Hutchinson-Gilford progeria syndrome?
- What are the complications and prognosis of people with Hutchinson-Gilford progeria syndrome?
- Where can I find information about diagnosis, management, or treatment of Hutchinson-Gilford progeria syndrome?
- Where can I find additional information about Hutchinson-Gilford progeria syndrome?
- What other names do people use for Hutchinson-Gilford progeria syndrome?
-
Anencephaly
Anencephaly is a neural tube defect that prevents abnormal development of the brain and bones of the skull. A combination of...learn more »
In This Article
Anencephaly Article
- Anencephaly facts*
- What is anencephaly?
- What are the causes, signs, and symptoms of anencephaly?
- How common is anencephaly?
- What genes are related to anencephaly?
- How do people inherit anencephaly?
-
In This Article
Treacher Collins Syndrome Article
- What is Treacher Collins syndrome?
- What are the signs and symptoms of Treacher Collins syndrome?
- What are the characteristics of Treacher Collins syndrome?
- How common is Treacher Collins syndrome?
- What genes are related to Treacher Collins syndrome?
- How do people inherit Treacher Collins syndrome?
- Where can I find information about diagnosis or management of Treacher Collins syndrome?
- What other names do people use for Tracher Collins syndrome?
-
Cancer Prevention
Certain behavioral, lifestyle, and environmental factors contribute to cancer. Cancer prevention involves modifying these factors...learn more »
In This Article
Cancer Prevention Article
- What is cancer prevention?
- Carcinogenesis
- Cancer Risk factors
- Factors That are Known to Increase the Risk of Cancer
- Factors That May Affect the Risk of Cancer
- Interventions that are known to lower cancer risk
- Interventions that are not known to lower cancer risk
-
In This Article
Rothmund-Thomson Syndrome Article
- What is Rothmund-Thomson syndrome (RTS)?
- What are the signs and symptoms of Rothmund-Thomson syndrome?
- How common is Rothmund-Thomson syndrome?
- What genes are related to Rothmund-Thomson syndrome?
- How do people inherit Rothmund-Thomson syndrome?
- What other names do people use for Rothmund-Thomson syndrome?
- Where can I find information about treatment for Rothmund-Thomson syndrome?
-
In This Article
Cleidocranial Dysplasia Article
- What is cleidocranial dysplasia?
- What are the symptoms and signs of cleidocranial dysplasia?
- How common is cleidocranial dysplasia?
- What genes are related to cleidocranial dysplasia?
- How do people inherit cleidocranial dysplasia?
- Where can I find information about treatment for cleidocranial dysplasia?
- What other names do people use for cleidocranial dysplasia?
-
In This Article
Tetrahydrobiopterin Deficiency Article
- What is tetrahydrobiopterin deficiency?
- What are the symptoms of tetrahydrobiopterin deficiency?
- How common is tetrahydrobiopterin deficiency?
- What genes are related to tetrahydrobiopterin deficiency?
- How do people inherit tetrahydrobiopterin deficiency?
- What other names do people use for tetrahydrobiopterin deficiency?
-
In This Article
Methemoglobinemia (Beta-Globin Type) Article
- What is methemoglobinemia, beta-globin type?
- How common is methemoglobinemia, beta-globin type?
- What genes are related to methemoglobinemia, beta-globin type?
- How do people inherit methemoglobinemia, beta-globin type?
- What other names do people use for methemoglobinemia, beta-globin type?
-
In This Article
Campomelic Dysplasia Article
- What is campomelic dysplasia?
- How common is campomelic dysplasia?
- What genes are related to campomelic dysplasia?
- How do people inherit campomelic dysplasia?
- What other names do people use for campomelic dysplasia?
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