Rubinstein Taybi Syndrome (Subscribe)  

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3). [OCOSH Code: C05.116.099.370.797_bd_dbd_do_rt]

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Rubinstein-Taybi Syndrome

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

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...

[Categories]

- OCOSH Classification: Bone Diseases: Bone Developmental Diseases: Dysostoses: Rubinstein Taybi Syndrome 
- OCOSH Classification: Foot Deformities: Congenital Foot Deformities 
- OCOSH Classification: Hand Conditions and Deformities: Congenital Hand Deformities 
- Orthopedic Topics: Paediatric Orthopaedics: Congenital Limb Malformations 

View Details Visit Resource Review It Rate It Bookmark It Added: Sat Jul 16 2005

Rubinstein-Taybi Syndrome

Location: http://www.thedoctorsdoctor.com/diseases/rubinstein-taybi_syndrome.htm

Rubinstein-Taybi syndrome (RTS) is a genetic disorder characterised by several features: Facial abnormalities Broad thumbs Broad big toes Mental retardation.

[Categories]

- OCOSH Classification: Bone Diseases: Bone Developmental Diseases: Dysostoses: Rubinstein Taybi Syndrome 

View Details Visit Resource Review It Rate It Bookmark It Added: Wed Nov 29 2006