Category Conditions (Page 1 of 2)

• Alpha-1 Antitrypsin Deficiency 0 members

  Alpha 1-antitrypsin deficiency (a1-antitryspin deficiency, A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the...

• Ataxia Telangiectasia 1 member

  Ataxia-telangiectasia (AT) (Boder-Sedgwick syndrome[1] or Louis-Bar syndrome) is a primary immunodeficiency disorder that occurs in an estimated incidence of 1 in 40,000 to 1 in 300,000 births.

• Birth Defects 0 members

  A congenital disorder is any medical condition that is present at birth. However, a congenital disorder can be recognized before birth (prenatally), at birth, years later, or never. The term congenital...

• Cerebral Palsy 0 members

  Cerebral palsy (CP) is an umbrella term encompassing a group of non-progressive, non-contagious diseases that cause physical disability in human development. Cerebral refers to the affected area o...

• Charcot-Marie-Tooth Disease 0 members

  Charcot-Marie-Tooth disease (CMT), known also as Hereditary Motor and Sensory Neuropathy (HMSN) or Peroneal Muscular Atrophy, is a heterogeneous inherited disorder of nerves (neuropathy) that is charac...

• Cleft Lip and Palate 0 members

  Cleft lip and cleft palate, which can also occur together as cleft lip and palate are variations of a type of clefting congenital deformity caused by abnormal facial development during gestation. This...

• Congenital Heart Defects 0 members

  A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels of a newborn. Most heart defects either obstruct blood flow in the heart or vessels near it or cause blood to...

• Cystic Fibrosis 0 members

  Cystic fibrosis (CF), is a hereditary/genetic/familial disease that mainly affects the lungs/respiratory/breathing and digestive/food pipe system of the body, causing progressive disability and for som...

• Down Syndrome 0 members

  Down syndrome is a developmental abnormality characterized by trisomy(tripling) of human chromosome 21. The extra copy of chromosome-21 leads to an over expression of certain genes located on chromosom...

• Dwarfism 0 members

  Dwarfism refers to a condition of extreme small size of an animal, or plant. Any type of marked human smallness could be termed dwarfism in older popular and medical usage. The term as related to human...

• Fetal Alcohol Syndrome 0 members

  Fetal alcohol syndrome or FAS is a disorder of permanent birth defects that occurs in the offspring of women who drink alcohol during pregnancy. It is unknown whether amount, frequency or timing of alc...

• Fragile X Syndrome 0 members

  Fragile X syndrome is a syndrome of X-linked mental retardation. Boys with the syndrome may have large testicles (macroorchidism), prognathism(long face with protruding lower jaw), hypotonia(sluggish m...

• Friedreich's Ataxia 0 members

  Friedreich's ataxia (FA) is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease. "Ata...

• Gaucher's Disease 0 members

  Gaucher's disease is the most common of the storage diseases. It is caused by a deficiency of the enzyme glucocerebrosidase, leading to an accumulation of its substrate, the fatty substance glucocerebr...

• Genetic Brain Disorders 0 members

  Genetic brain disorders: The causes of mental disorders are complex, and interact and vary according to the particular disorder and individual. Genetics, early development, drugs, disease or injury, ne...

• Hemochromatosis 0 members

  Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper dietary iron metabolism (making it an iron overload disorder), which causes the accumulation of iron in...

• Hemophilia 0 members

  Haemophilia or hemophilia is the name of a family of hereditary genetic disorders that impair the body's ability to control blood clotting, or coagulation. In the most common form, haemophilia A, clott...

• Huntington's Disease 0 members

  Huntington's disease (HD), known historically as Huntington's chorea and chorea major, is a rare inherited neurological disorder affecting up to approximately 1 person per 10,000 people of Western Euro...

• Hydrocephalus 0 members

  Hydrocephalus is a term derived from the Greek words "hydro" meaning water, and "cephalus" meaning head, and this condition is sometimes known as "water on the brain". People with this condition have a...

• Klinefelter's Syndrome 0 members

  Klinefelter's syndrome, 47, XXY or XXY syndrome is a condition caused by a chromosome aneuploidy (change in the normal number of chromosomes). Affected males have an extra X sex chromosome. The princip...