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Summitt Syndrome

Abstract

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Synonyms of Summitt Syndrome

Summitt's Acrocephalosyndactyly

Disorder Subdivisions

No subdivisions found.

General Discussion

Summitt syndrome is an extremely rare genetic disorder characterized by malformations of the head, abnormalities of the hands and/or feet, and obesity. The syndrome is inherited as an autosomal recessive genetic trait. Some researchers believe that Summitt syndrome is one of seven closely related forms of a disorder characterized by characteristic malformations of the head and webbing between several toes and/or fingers (acrocephalopolysyndactyly). The malformations of the head are the result of the premature closings of the seams (cranial sutures) between the bony plates that make up the skull. Of the various forms of this disorder, many geneticists believe that Summitt syndrome is closely related to Carpenter syndrome (acrocephalopolysyndactyly type II).

Organizations related to Summitt Syndrome

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