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Simpson Dysmorphia

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

Description: cardiac malformations, mild to moderate mental retardation, cleft palate, and polydactyly. NORD Database
Synonyms of Simpson Dysmorphia Syndrome
* Bulldog Syndrome
* DGSX Golabi-Rosen Syndrome, Included
* Dysplasia Gigantism Syndrome, X-Linked
* SDYS
* SGB Syndrome
* Simpson-Golabi-Behmel Syndrome
Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformations, mild to moderate mental retardation, cleft palate, and more than the five fingers and/or toes (polydactyly).

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

Language: English

Submitted by: admin
Hits: 285
Added: Sat Jul 16 2005
Last Modified: Thu Aug 06 2009