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Abetalipoproteinemia
Bassen-Kornzweig syndrome is a rare, inherited disease in which a person is unable to fully absorb dietary fats through the intestines.
Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy is an inherited disorder that involves rapidly-worsening muscle weakness.Pseudohypertrophic muscular dystrophy; Muscular dystrophy- Duchenne type.
Duchenne muscular dystrophy is an inherited disorder that involves rapidly-worsening muscle weakness.Pseudohypertrophic muscular dystrophy; Muscular dystrophy- Duchenne type.
Charcot Marie Tooth Disease
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine.
Charcot-Marie-Tooth disease is a group of disorders that affect the peripheral nerves, the nerves running from outside the brain and spine.
Ehlers Danlos Syndrome
Ehlers-Danlos syndrome is a group of inherited disorders marked by extremely loose joints, hyperelastic skin that bruises easily, and easily damaged blood vessels.
Friedreich Ataxia
Friedreich''s ataxia is a rare disease passed down through families(inherited) that affects the muscles and heart.
Friedreich''s ataxia is a rare disease passed down through families(inherited) that affects the muscles and heart.
Sturge-Weber Syndrome
Sturge-Weber syndrome is a rare disorder present at birth in which the child has a port-wine stain birthmark(usually on the face) and neurologic problems.The cause of Sturge-Weber is unknown.
Sturge-Weber syndrome is a rare disorder present at birth in which the child has a port-wine stain birthmark(usually on the face) and neurologic problems.The cause of Sturge-Weber is unknown.
Turner Syndrome
Turner syndrome is a genetic condition in which a female does not have the usual pair of two X chromosomes.Bonnevie-Ullrich syndrome; Gonadal dysgenesis; Monosomy X.Humans have 46 chromosomes.
Williams Syndrome
Williams syndrome is a rare genetic disorder that can lead to problems with development.Williams syndrome is a rare condition caused by missing genes.
Williams syndrome is a rare genetic disorder that can lead to problems with development.Williams syndrome is a rare condition caused by missing genes.
Homocystinuria
Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine.Homocystinuria is inherited in families as an autosomal recessive trait.
Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine.Homocystinuria is inherited in families as an autosomal recessive trait.
Hallervorden-Spatz Disease
Hallervorden-Spatz disease is a movement disorder that is passed down through families(inherited).
Huntington's Disease
Huntington''s disease is a disorder passed down through families in which nerve cells in the brain waste away, or degenerate.American doctor George Huntington first described the disorder in 1872.
Gaucher's Disease
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.Glucocerebrosidase deficiency; Glucosylceramidase deficiency.
Gaucher disease is a rare genetic disorder in which a person lacks an enzyme called glucocerebrosidase.Glucocerebrosidase deficiency; Glucosylceramidase deficiency.
Niemann-Pick Disease
Niemann-Pick disease refers to a group of diseases passed down through families(inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.
Niemann-Pick disease refers to a group of diseases passed down through families(inherited) in which fatty substances called lipids collect in the cells of the spleen, liver, and brain.
Down Syndrome
Down syndrome is a genetic condition in which a person has 47 chromosomes instead of the usual 46.In most cases, Down syndrome occurs when there is an extra copy of chromosome 21.
Metabolic Syndrome X
Metabolic syndrome is a name for a group of symptoms that occur together and promote the development of coronary artery disease, stroke, and type 2 diabetes.
Aicardi Syndrome
Aicardi Syndrome is a rare inherited(genetic) disorder in which the structure that connects the two sides of the brain(corpus callosum) is partly or completely missing.
Aicardi Syndrome is a rare inherited(genetic) disorder in which the structure that connects the two sides of the brain(corpus callosum) is partly or completely missing.
Aase Syndrome
Aase syndrome is a rare disorder that involves anemia and certain joint and skeletal deformities.
Tay-Sachs Disease
Tay-Sachs disease is a deadly disease of the nervous system passed down through families.
Chediak Higashi Syndrome
Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes, and skin.
G6PD Deficiency
Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.
Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a hereditary condition in which red blood cells break down when the body is exposed to certain drugs or the stress of infection.
Osler-Weber-Rendu Disease (HHT)
Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.Osler-Weber-Rendu syndrome is an inherited condition.
Osler-Weber-Rendu syndrome is an inherited disorder of the blood vessels that can cause excessive bleeding.Osler-Weber-Rendu syndrome is an inherited condition.
Thrombasthenia
Glanzmann’s disease is a rare disorder of blood platelets, which results in easy bruising and nosebleeds.
Albinism
Albinism is a defect of melanin production that results in little or no color(pigment) in the skin, hair, and eyes.Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome.
Albinism is a defect of melanin production that results in little or no color(pigment) in the skin, hair, and eyes.Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome.Topics
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