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Rubinstein-Taybi Syndrome

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

Description: growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "beak-shaped" nose; abnormally broad thumbs and great toes (halluces); and/or breathing and swallowing difficulties. NORD Database
Synonyms of Rubinstein Taybi Syndrome * Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation * Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome * RSTS * Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome * Rubinstein syndrome

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

Language: English

Submitted by: admin
Hits: 540
Added: Sat Jul 16 2005
Last Modified: Thu Aug 06 2009