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What is Adams-Oliver Syndrome?

Adams-Oliver Syndrome (AOS) is a rare genetic disease characterized by aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD) with varying degrees of penetrance and expression [1].

Pictures of aplasia cutis congenita (ACC): Reference [4]
Pictures of terminal transverse limb defects (TTLD): Hands [4] and Feet [4]

Variable clinical features are observed in different individuals, including problems in blood vessels, bones, abdominal wall, heart, eyes, and brain [2, 3]. Some of these features are further discussed in the Diagnosis & Treatment section.

Both autosomal dominant and autosomal recessive modes of inheritance have been observed in AOS. The ARHGAP31 gene underlies the autosomal dominant form of AOS, which is also known as AOS1; the DOCK6 gene underlies the autosomal recessive form of ASO, which is also known as AOS2 [2,3]. It has been estimated that 0.44 per 100,000 live births have AOS1 [1]. AOS can also arise in individual without any family history by de novo changes in genes [2,3].

AOS Discovery

In 1945, Forrest Adams and C. Peter Oliver reported the first case of AOS. The affected boy had limb defects as well as defects in both his skull and scalp. An examination of his family history showed that two of his six siblings had similar conditions and that his father had similar but less severe condition. In this original case, AOS showed a mode of autosomal dominant inheritance. This individual survived to adulthood and reported good quality of life [2,3].



1. Patel MS, Taylor GP, Bharya S, Al‐Sanna’a N, Adatia I, Chitayat D, et al. Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams–Oliver syndrome. American Journal of Medical Genetics Part A. 2004 Sep 1;129A(3):294–9.
2. #100300 Admas-Oliver Syndrome 1: AOS1. [OMIM]
3. #614219 Adams-Oliver Syndrome 2: AOS2. [OMIM]
4. Bakry O, Attia A, El Shafey EN. Adams-Oliver Syndrome. A case with isolated aplasia cutis congenita and skeletal defects. J Dermatol Case Rep. 2012 Mar 27;6(1):25–8. [PubMed Central]