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Adams-Oliver syndrome - Skin
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Adams-Oliver syndrome - Skin

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Contributors: Maria Cordisco MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Adams and Oliver syndrome (AOS) is a rare congenital condition consisting of the association between aplasia cutis congenita, ending transverse limbs defects, and cutis marmorata telangiectatica congenita. AOS can also be associated with extensive anomalies of internal organs including central nervous, cardiopulmonary, gastrointestinal, and genitourinary systems.

Both genetic and sporadic inheritance have been reported in the medical literature; however, in most cases, this syndrome is inherited in an autosomal dominant fashion. Recently, two different truncating mutations in the ARHGAP31 gene were found with a locus on chromosome 3q13.31-q13.33. In addition, an autosomal recessive form is caused by a mutation in the DOCK6 gene on chromosome 19p13.2.

For more information, see OMIM.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
34748004 – Adams-Oliver syndrome

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Last Updated: 03/29/2017
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Adams-Oliver syndrome : Hypoplastic phalanges
Clinical image of Adams-Oliver syndrome
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