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Summitt Syndrome

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Location: http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Summitt%20Syndrome

Description: Craniosynostosis and polysundactyly. May be one of the ACPS group of syndromes. NORD database.
Synonyms of Summitt Syndrome
* Summitt's Acrocephalosyndactyly
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).

Type: Reference Material
Author/Contact: Not Available
Institution: NORD
Primary Subject/Category:

Language: English

Submitted by: admin
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Added: Sat Jul 16 2005
Last Modified: Thu Aug 06 2009