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.

  • 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 »
  • Diabetes (Type 1 and Type 2) Diabetes mellitus is a chronic condition characterized by high levels of sugar (glucose) in the blood. The two types of diabetes...learn more »
    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?
  • 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
    • Parkinson's disease facts
    • 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?
  • Allergy (Allergies) An allergy refers to a misguided reaction by our immune system in response to bodily contact with certain foreign substances. ...learn more »
  • Deep Vein Thrombosis (DVT) Deep vein thrombosis (DVT) is a blood clot in a vein located deep in the muscles of the legs, thighs, pelvis (lower torso), or...learn more »
    In This Article
    Deep Vein Thrombosis (DVT) Article
    • Deep vein thrombosis (DVT) facts
    • Introduction to deep vein thrombosis (DVT)
    • 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?
  • 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?
  • 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
    • Pernicious anemia facts
    • 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?
  • 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 do physicians diagnose atopic dermatitis?
    • 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 prognosis of atopic dermatitis?
  • 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
    • Hay fever facts
    • 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?
  • 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?
  • 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 on Graves' disease
  • Amyotrophic Lateral Sclerosis (ALS) Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease) is a neurological disease that progresses rapidly. The disease attacks...learn more »
    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?
  • Connective Tissue Disease Connective tissue disease is when the body's connective tissues come under attack, possibly becoming injured by inflammation....learn more »
    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?
  • Macular Degeneration Age-related macular degeneration (AMD) is a disease that gradually destroys the central vision. In people over 60, AMD is a...learn more »
    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?
  • Ehlers-Danlos Syndrome Ehlers-Danlos syndromes are genetic disorders that include symptoms such as loose joints, tissue weakness, easy bruising, and...learn more »
    In This Article
    Ehlers-Danlos Syndrome Article
    • Ehlers-Danlos syndrome facts
    • What is Ehlers-Danlos syndrome?
    • What are the types of Ehlers-Danlos syndromes?
    • What are symptoms of Ehlers-Danlos syndrome?
    • How are Ehlers-Danlos syndromes diagnosed?
    • How are Ehlers-Danlos syndromes treated?
  • 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?
  • 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?
  • 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?
  • 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?
  • 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?
  • Sickle Cell Disease (Sickle Cell Anemia) Sickle cell anemia (sickle cell disease), a blood disease which shortens life expectancy, is cause by an inherited abnormal...learn more »
    In This Article
    Sickle Cell Disease (Sickle Cell Anemia) Article
    • Sickle cell anemia facts
    • 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?
  • 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
    • Thalassemia facts
    • 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
  • Pheochromocytoma Pheochromocytoma is a tumor of the adrenal gland. Pheochromocytomas are quite rare and the vast majority of them are entirely...learn more »
    In This Article
    Pheochromocytoma Article
    • Pheochromocytoma facts
    • What is a pheochromocytoma?
    • What are the symptoms of a pheochromocytoma?
    • What conditions are associated with pheochromocytomas?
    • What else can cause the symptoms of a pheochromocytoma?
    • How is pheochromocytoma diagnosis?
    • How is a pheochromocytoma treated?
    • What is the prognosis with a pheochromocytoma?
  • 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?
  • Huntington's Disease Huntington's disease is the result of degeneration of neurons in areas of the brain. Huntington's disease is an inherited...learn more »
    In This Article
    Huntington's Disease Article
    • Huntington's disease facts*
    • 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?
  • 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?
  • Polycystic Kidney Disease (PKD) Polycystic kidney disease (PKD) is characterized by numerous cysts in the kidneys. Polycystic kidney disease is a genetic...learn more »
    In This Article
    Polycystic Kidney Disease (PKD) Article
    • Polycystic kidney disease facts*
    • 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
  • 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
    • Glucose-6-phosphate dehydrogenase deficiency facts*
    • 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?
  • Wolff-Parkinson-White Syndrome Wolff-Parkinson-White syndrome is a condition in which abnormal electrical pathways in the heart cause arrhythmias. Symptoms of...learn more »
    In This Article
    Wolff-Parkinson-White Syndrome Article
    • What is Wolff-Parkinson-White syndrome?
    • Who gets Wolff-Parkinson-White syndrome?
    • What causes Wolff-Parkinson-White syndrome?
    • What are the signs and symptoms of Wolff-Parkinson-White syndrome?
    • What are the potential complications of Wolff-Parkinson-White syndrome?
    • How is Wolff-Parkinson-White syndrome diagnosed?
    • What is the treatment for Wolff-Parkinson-White syndrome?
    • What is the prognosis for Wolff-Parkinson-White syndrome?
    • Can Wolff-Parkinson-White syndrome be prevented?
  • Miscarriage Miscarriage is the medical term for the spontaneous loss of pregnancy from conception to 20 weeks gestation. Risk factors for a...learn more »
    In This Article
    Miscarriage Article
    • What is a miscarriage?
    • How common is miscarriage?
    • What causes miscarriage?
    • What are the types of miscarriage?
    • What are signs and symptoms of a miscarriage?
    • How is miscarriage diagnosed?
    • What happens after a miscarriage?
    • What is the outlook for future pregnancies after a miscarriage?
    • Can miscarriage be prevented?
  • Cholesterol High cholesterol and triglyceride levels increase the risk of cardiovascular disease. Getting your cholesterol and triglyceride...learn more »
    In This Article
    Cholesterol Article
    • What is cholesterol?
    • What are the different types of cholesterol?
    • Why is high cholesterol dangerous?
    • Where does cholesterol come from?
    • What are normal cholesterol levels?
    • Which foods can help lower cholesterol?
    • What other lifestyle interventions help lower cholesterol?
    • What medications are available to treat high cholesterol?
  • 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
  • Mitochondrial Disease Learn about mitochondrial disease, genetic disease in which include a group of neuromuscular diseases that are caused by damage...learn more »
    In This Article
    Mitochondrial Disease Article
    • Mitochondrial myopathies facts*
    • What are mitochondrial myopathies?
    • What are the symptoms of 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
  • Asperger's Syndrome (Asperger Syndrome, Asperger Disorder) Asperger's syndrome (AS, Asperger syndrome, Asperger disorder) is an autism spectrum disorder. Asperger's syndrome is...learn more »
    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?
  • 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
    • Turner syndrome facts
    • 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?
  • 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?
  • Breast Cancer Breast cancer is an invasive tumor that develops in the mammary gland. Breast cancer is detected via mammograms, breast...learn more »
    In This Article
    Breast Cancer Article
    • Breast cancer facts
    • What is breast cancer?
    • What are the risk factors for breast cancer?
    • What causes breast cancer?
    • What are the different types of breast cancer?
    • What are the signs and symptoms of breast cancer?
    • How is breast cancer diagnosed?
    • Screening
    • Definitive diagnosis
    • Specialized testing
    • What are the stages of breast cancer?
    • What is the treatment for breast cancer?
    • Surgery
    • Radiation
    • Hormone therapy
    • Chemotherapy
    • Targeted therapy
    • Breast cancer treatment by stage
    • What are the survival rates and prognosis for breast cancer?
    • What research is being performed on breast cancer?
    • Can breast cancer be prevented?
  • 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?
  • 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?
  • Charcot-Marie-Tooth-Disease Charcot-Marie-Tooth disease is one of the most common inherited neurological disorders. Charcot-Marie-Tooth disease affects the...learn more »
    In This Article
    Charcot-Marie-Tooth-Disease Article
    • What is Charcot-Marie-Tooth disease?
    • What are the symptoms of Charcot-Marie-Tooth disease?
    • What causes Charcot-Marie-Tooth disease?
    • What are the types of 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?
  • Alpha-1 Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is an inherited disorder that may cause liver and lung disease in adults. Signs and symptoms...learn more »
    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?
  • Klinefelter Syndrome Klinefelter syndrome, also referred to as XXY condition, is a genetic disease. Klinefelter syndrome affects mostly males....learn more »
    In This Article
    Klinefelter Syndrome Article
    • Klinefelter syndrome facts*
    • 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?
  • Prader-Willi Syndrome Prader-Willi syndrome is a condition characterized by severe floppiness (hypotonia), poor growth, delayed development, and poor...learn more »
    In This Article
    Prader-Willi Syndrome Article
    • Prader-Willi syndrome facts*
    • 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?
  • 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
    • Hemophilia facts
    • 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?
  • Fish Odor Syndrome (Trimethylaminuria) Fish odor syndrome (trimethylaminuria) is a genetic disorder in which the symptoms of the syndrome include offensive body odor...learn more »
    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)?
  • 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
    • Birth defects facts*
    • What are birth defects?
    • What causes birth defects?
    • What are the different types of birth defects?
    • What are the treatments for birth defects?
  • Autism Spectrum Disorder (In Children and Adults) Autism in children and adults is a developmental disorder, characterized by impaired development in communication, social...learn more »
    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 and 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
  • 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?
  • 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?
  • 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?
  • Hirschsprung's Disease Hirschsprung's disease (Hirschsprung), is a disease of the nerve cells of of the large intestine. The primary symptom of...learn more »
    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
  • 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
  • Learning Disabilities Learning disabilities can cause an individual to have trouble learning and using skills such as reading, listening, writing,...learn more »
    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
  • 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?
  • Neuropathic Pain Neuropathic pain is chronic pain resulting from injury to the nervous system. The injury can be to the central nervous system...learn more »
    In This Article
    Neuropathic Pain Article
    • What is neuropathy and neuropathic pain?
    • What are the causes of and risks for neuropathy and neuropathic pain?
    • What are the signs and symptoms of neuropathic pain?
    • How is neuropathic pain diagnosed?
    • What is the treatment for neuropathic pain? Are there cures available for neuropathic pain?
    • What are the potential complications of neuropathic pain?
    • Can neuropathic pain be prevented?
  • 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?
  • 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?
  • 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?
  • Spina Bifida and Anencephaly (Neural Tube Defects) Spina bifida is the most common neural tube defect in the United States. There are four types of spina bifida; 1) occulta, 2)...learn more »
    In This Article
    Spina Bifida and Anencephaly (Neural Tube Defects) Article
    • Spina bifida facts*
    • 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?
  • 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
    • Cancer risk factor facts*
    • 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
  • 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
  • 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?
  • Treacher Collins Syndrome Treacher Collins syndrome is a rare genetic condition that affects the development of the bones and tissues of the face. Symptoms...learn more »
    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?
  • Down Syndrome Down syndrome is a genetic disorder that is caused by an additional set of chromosomes in a developing fetus. Distinctive facial...learn more »
    In This Article
    Down Syndrome Article
    • What is Down syndrome?
    • What causes Down syndrome?
    • What are the signs and symptoms of Down syndrome?
    • How is Down syndrome diagnosed?
    • What is the treatment for Down syndrome?
    • What are the potential complications of Down syndrome?
    • What is the prognosis for someone with Down syndrome?
    • What is the life expectancy for someone with Down syndrome?
    • Can Down syndrome be prevented?
  • 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?
  • 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?
  • Face Blindness (Prosopagnosia) Face blindness (prosopagnosia) is a condition that causes the inability to recognize faces. Face blindness may be caused by...learn more »
    In This Article
    Face Blindness (Prosopagnosia) Article
    • Prosopagnosia (face blindness) facts*
    • What is prosopagnosia?
    • Is there any treatment?
    • What is the prognosis?
    • What research is being done?
  • 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
    • Loeys-Dietz syndrome facts
    • 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?
  • Parry-Romberg Syndrome Parry-Romberg syndrome is a rare disorder that is characterized by a slow progressive atrophy of the skin and soft tissues of...learn more »
    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?
  • Pycnodysostosis Pycnodysostosis (pyknodysostosis) is an inherited disease of the bone. Characteristics of individuals with pycnodysostosis are...learn more »
    In This Article
    Pycnodysostosis Article
    • Pycnodysostosis facts
    • 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?
  • Malignant Hyperthermia Malignant hyperthermia is a severe reaction to certain drugs that are often used during invasive procedures or surgery. Certain...learn more »
    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?
  • 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...learn more »
    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
  • Klippel-Trenaunay-Weber Syndrome Klippel-Trènaunay-Weber (KTW) syndrome is a condition characterized by port-wine stains or birthmark malformations in the skin,...learn more »
    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
  • 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?
  • 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...learn more »
    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?
  • 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
    • Noonan syndrome facts*
    • What is Noonan syndrome?
    • What are the signs and symptoms of Noonan syndrome?
    • How common is Noonan syndrome?
    • What genes are related to Noonan syndrome?
    • How do people inherit Noonan syndrome?
    • What other names do people use for Noonan syndrome?
  • 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
  • Colon Cancer Prevention Colo-rectal cancer is both curable and preventable if it is detected early and completely removed before the cancerous cells...learn more »
    In This Article
    Colon Cancer Prevention Article
    • Colon cancer prevention facts
    • Introduction to colon cancer prevention
    • When should colon cancer screening begin?
    • What are the risk factors for colon cancer?
    • What measures to prevent colorectal cancer have proven effectiveness and long-term safety?
    • What measures to prevent colorectal cancer probably are effective but may have long-term adverse side effects?
    • What measures to prevent colorectal cancer probably are effective and safe?
    • What prevention measures have been found to be ineffective?
    • What about genetic testing for colon cancer?
    • Who should consider genetic counseling and testing?
    • Why is genetic counseling and testing important in hereditary colon cancer syndromes?
    • What can be done now to prevent colorectal cancer?
  • Peyronie's Disease (Curvature of the Penis) Peyronie's disease is a condition characterized by a hard lump, or plaque, that forms within the penis. Symptoms of Peyronie's...learn more »
    In This Article
    Peyronie's Disease (Curvature of the Penis) Article
    • Peyronie's disease facts*
    • What is Peyronie's disease?
    • What are the symptoms of Peyronie's disease?
    • What causes Peyronie's disease?
    • How does Peyronie's disease develop?
    • How is Peyronie's disease evaluated?
    • How is Peyronie's disease treated?
    • Medical treatments for Peyronie's disease
    • Surgery for Peyronie's disease
    • Hope through Research
    • For More Information about Peyronie's disease
    • Acknowledgments
  • 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?
  • 1p36 Deletion Syndrome 1p36 deletion syndrome is a genetic disorder that causes severe intellectual disability. Characteristics of 1p36 deletion sndrome...learn more »
    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
  • Hutchinson-Gilford Progeria Syndrome Hutchinson-Gilford progeria syndrome is an inherited genetic condition. This syndrome is characterized by a dramatic, rapid...learn more »
    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?
  • 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?
    • Who is at risk for Gaucher disease?
    • What are the major signs and symptoms of Gaucher disease?
    • What genes are related to Gaucher disease?
    • How do people inherit Gaucher disease?
    • What is the treatment for Gaucher disease?
    • Why should I talk to my family about Gaucher disease?
    • How are families affected by Gaucher disease?
    • Why is it important to let my family know I have Gaucher disease?
    • How do I talk to my family about Gaucher disease?
    • How do I prepare to talk to my family about Gaucher disease?
    • Conversation starters
    • What should I do if my family does not want to talk about Gaucher disease?
    • Where can I find more about management for Gaucher disease?
    • What other names do people use for Gaucher disease?
  • 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?
  • Pseudoxanthoma Elasticum Pseudoxanthoma elasticum (PXE) is a genetic disorder. Signs and symptoms include small yellow-white raised areas in the skin...learn more »
    In This Article
    Pseudoxanthoma Elasticum Article
    • Pseudoxanthoma elasticum facts
    • What is pseudoxanthoma elasticum?
    • How is pseudoxanthoma elasticum inherited?
    • What are symptoms of pseudoxanthoma elasticum?
    • What is the treatment for patients with pseudoxanthoma elasticum?
  • 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?
  • 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
  • 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
    • Canavan disease facts*
    • 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?
  • 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?
  • Cleidocranial Dysplasia Cleidocranial dysplasia is a genetic condition. Cleidocranial dysplasia is also referred to as cleidocranial dysostosis and...learn more »
    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?
  • Trisomy 18 Trisomy 18, also known as Edwards syndrome, is a rare genetic disorder that causes severe birth defects in newborns. Signs and...learn more »
    In This Article
    Trisomy 18 Article
    • What is trisomy 18?
    • What causes trisomy 18? What are the different kinds of trisomy 18?
    • What are the signs and symptoms of trisomy 18?
    • How is trisomy 18 diagnosed?
    • What is the treatment for trisomy 18?
    • What is the life expectancy for someone with trisomy 18?
  • Tetrahydrobiopterin Deficiency Tetrahydrobiopterin deficiency is a rare genetic disorder that increases the levels of phenylalanine and several other substances...learn more »
    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?
  • Methemoglobinemia (Beta-Globin Type) Methemoglobinemia (beta-globin type) is an inherited genetic disorder characterized by an atypical form of hemoglobin that is...learn more »
    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?
  • Rothmund-Thomson Syndrome Rothmund-Thomson syndrome is a rare genetic. The signs and symptoms of Rothmund-Thomson syndrome include a redness on the cheeks...learn more »
    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?
  • Campomelic Dysplasia Campomelic dysplasia is a rare inherited condition that may be life threatening. The condition affects the skeleton and...learn more »
    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?