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Adams–Oliver Syndrome

  • Reference work entry
Atlas of Genetic Diagnosis and Counseling

  • 356 Accesses

In 1945, Adams and Oliver described congenital transverse limb defects associated with aplasia cutis congenita in a three-generation kindred with typical autosomal dominant inheritance and intrafamilial variable expressivity.

Synonyms and Related Disorders

Aplasia cutis congenita with terminal transverse limb defects

Genetics/Basic Defects

  1. 1.

    Genetic heterogeneity

    1. a.

      Autosomal dominant in most cases

      1. i.

        The family described by Adams and Oliver, and revisited by Whitley and Gorlin in 1991, illustrates vertical transmission, with multiple affected members spanning four generations and includes male-to-male transmission, consistent with autosomal dominant inheritance

      2. ii.

        Reports from over 20 further kindreds provide support for the role of a heterozygous autosomal gene mutation (Snape et al. 2009).

    2. b.

      Autosomal recessive in some cases

      1. i.

        The combination of aplasia cutis congenita and terminal transverse limb defects within sibships provides evidence for an autosomal recessive mode of...

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References

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Editor information

Editors and Affiliations

  1. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, Shreveport, LA, 71130, USA

    Harold Chen

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(2012). Adams–Oliver Syndrome. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_4

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