Easy Tips

What is McKusick Kaufman syndrome?

Standard

What is McKusick Kaufman syndrome?

Collapse Section. McKusick-Kaufman syndrome is a condition that affects the development of the hands and feet, heart, and reproductive system. It is characterized by a combination of three features: extra fingers and/or toes (polydactyly ), heart defects, and genital abnormalities.

What is Bardet Biedl syndrome?

Summary. Bardet-Biedl syndrome (BBS) is a genetic condition that impacts multiple body systems. It is classically defined by six features. Patients with BBS can experience problems with obesity, specifically with fat deposition along the abdomen. They often also suffer from intellectual impairments.

What is Fraser syndrome?

Fraser syndrome is a rare genetic disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract.

What is Cohen’s syndrome?

Cohen syndrome is a fairly variable genetic disorder characterized by diminished muscle tone (hypotonia), abnormalities of the head, face, hands and feet, eye abnormalities, and non-progressive intellectual disability.

What is Baraitser winter syndrome?

Baraitser-Winter Cerebrofrontofacial syndrome (BWCFF) is a genetic condition, caused by changes in the ACTB and ACTG1 genes that cause production of proteins with altered function. It is associated with distinct face and eye anomalies, intellectual disability and abnormal development of the grey matter of the brain.

How is Cornelia de Lange syndrome treated?

Specific therapies for the treatment of CdLS are symptomatic and supportive. In some children, surgery may be performed to help correct cleft palate, cardiac defects and/or diaphragmatic hernias. Plastic surgery may be helpful in reducing excessive hair.

Is CdLS genetic?

Cornelia de Lange Syndrome (CdLS) is a genetic disorder present from birth, usually not inherited. It is usually due to an acquired change (mutation) in one of seven important developmental genes at or shortly after conception.