Adams Oliver syndrome

Adams-Oliver Syndrome (pronunciation: AD-uhmz OH-lih-vur sin-drohm) is a rare congenital disorder characterized by the combination of limb abnormalities and scalp defects, often accompanied by cutis aplasia. The syndrome was first described by American physicians Adams and Oliver in 1945.

Etymology

The syndrome is named after the American physicians Forrest H. Adams and Clarence A. Oliver who first described the condition in 1945.

Symptoms

The primary symptoms of Adams-Oliver Syndrome include congenital limb defects and scalp defects. The limb defects often involve the absence of part or all of the limb, while the scalp defects often involve cutis aplasia, a condition where the skin layer over the skull is missing. Other symptoms can include cardiovascular abnormalities, renal abnormalities, and neurological abnormalities.

Causes

The exact cause of Adams-Oliver Syndrome is unknown, but it is believed to be genetic in nature. Several genes have been associated with the syndrome, including ARHGAP31, DOCK6, RBPJ, EOGT, and NOTCH1. The syndrome is typically inherited in an autosomal dominant manner, but can also be inherited in an autosomal recessive manner.

Diagnosis

Diagnosis of Adams-Oliver Syndrome is typically based on the presence of the characteristic physical features. Genetic testing can confirm the diagnosis and identify the specific gene mutation.

Treatment

Treatment for Adams-Oliver Syndrome is symptomatic and supportive. This can include surgery to correct limb and scalp defects, as well as management of any associated conditions such as cardiovascular, renal, or neurological abnormalities.

See also

• Congenital disorder
• Cutis aplasia
• Genetic disorder

External links

• Medical encyclopedia article on Adams Oliver syndrome
• Wikipedia's article - Adams Oliver syndrome

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