Adams-Oliver Syndrome 4 (EOGT)

Adams-Oliver Syndrome 4 (ADS-4) is an autosomal recessive disorder caused by pathogenic variants in the gene EOGT. Clinical symptoms of this disorder are typically present at birth. This disorder is typically characterized by an abnormality in skin development (aplasia cutis congenita) that causes localized areas of missing skin, typically on the top of the head. Infants may have a reddish or purplish net-like pattern on the skin caused by a disorder of the blood vessels (cutis marmorata telangiectatica congenita). Many individuals also have abnormalities of their hands and feet, including fingers or toes that are fused together, short, or missing. Cardiovascular anomalies have been reported in a few cases. Life expectancy is not known. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):