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Sakati Syndrome

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

Description: aka ACPS III Craniosynostosis and polysyndactyly. NORD Database
Synonyms of Sakati Syndrome
* ACPS III
* ACPS with Leg Hypoplasia
* Acrocephalopolysyndactyly Type III
* Sakati-Nyhan Syndrome
Sakati Syndrome belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). In addition, Sakati Syndrome, which is also known as ACPS type III, is associated with abnormalities of bones of the legs, structural heart malformations that are present at birth (congenital heart defects), and/or other findings. Sakati Syndrome is thought to be caused by a new genetic change (mutation) that occurs randomly for unknown reasons (sporadically).

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

Language: English

Submitted by: admin
Hits: 385
Added: Sat Jul 16 2005
Last Modified: Thu Aug 06 2009