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Adams-Oliver syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Adams-Oliver syndrome in Infant/Neonate

Contributors: Maria Cordisco MD, Jeffrey D. Bernhard MD, Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH
Other Resources UpToDate PubMed

Synopsis

Adams-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.

Codes

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

SNOMEDCT:
34748004 – Adams-Oliver syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Constriction ring syndrome defects that cause limb focal aplasia and/or amputation
  • Limb anomalies caused by teratogenic agents
  • Focal dermal hypoplasia (Goltz syndrome)
  • Other congenital erosive and vesicular dermatoses such as Neonatal herpes simplex virus and Epidermolysis bullosa simplex

Best Tests

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Management Pearls

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Therapy

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References

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Last Updated:01/11/2022
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Adams-Oliver syndrome in Infant/Neonate
A medical illustration showing key findings of Adams-Oliver syndrome : Dilated scalp veins, Hypoplastic phalanges
Clinical image of Adams-Oliver syndrome - imageId=6113667. Click to open in gallery.  caption: 'Cutis marmorata telangiectatica congenita, appearing as mottled and retiform reddish and violaceous patches and plaques on the leg.'
Cutis marmorata telangiectatica congenita, appearing as mottled and retiform reddish and violaceous patches and plaques on the leg.
Copyright © 2024 VisualDx®. All rights reserved.