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Rubinstein-Taybi Syndrome
Definition: 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).

Synonym(s): Broad Thumb-Hallux Syndrome / Rubinstein Syndrome / Broad Thumb Hallux Syndrome / Broad Thumb-Hallux Syndromes / Rubinstein Taybi Syndrome / Syndrome, Broad Thumb-Hallux / Syndrome, Rubinstein / Syndrome, Rubinstein-Taybi / Syndromes, Broad Thumb-Hallux
See also:
Mental Retardation   

MeSH 2010 © U.S. National Library of Medicine®.
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  More information from the Genetics Home Reference Website
What is Rubinstein-Taybi syndrome?
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe mental retardation, distinctive facial features, and broad thumbs and first toes. Additional features of the disorder can include eye abnormalities, heart and kidney defects, dental problems, and obesity. These signs and symptoms vary among affected individuals. People with this condition have an increased risk of developing noncancerous and cancerous tumors, including certain kinds of brain tumors. Cancer of blood-forming tissue (leukemia) also occurs more frequen ...

How common is Rubinstein-Taybi syndrome?
This condition is uncommon; it occurs in an estimated 1 in 100,000 to 125,000 newborns.


More information from the Genetics Home Reference Website
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  Web resources for "Rubinstein-Taybi Syndrome"
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view the HON description of the site HONcode - Rubinstein-Taybi syndrome - Genetics Home Referenceghr.nlm.nih.gov 6
view the HON description of the site HONcode - Rubinstein-Taybi syndrome: MedlinePlus Medical Encyclopediawww.nlm.nih.gov  
view the robot description of the site rare-diseases — National Organization for Rare Disorderswww.rarediseases.org  
view the HON description of the site HONcode - Orphanet: Rubinstein Taybi syndromewww.orpha.net  
view the HON description of the site HONcode - Rubinstein-Taybi syndromewww.kumc.edu  
view the robot description of the site Rubinstein-Taybi Syndromewww.rubinstein-taybi.org  
view the robot description of the site RTSUK - Rubinstein-Taybi Syndrome UK Support Groupwww.rtsuk.org  
view the robot description of the site Ehealthconnection | Health Informationwww.ehealthconnection.com  
 
 

See also: - Mental Retardation

Broader term(s): - Dysostoses - Bone Diseases, Developmental - Bone Diseases - Musculoskeletal Diseases - Craniofacial Abnormalities - Musculoskeletal Abnormalities - Mental Retardation - Neurobehavioral Manifestations - Neurologic Manifestations - Nervous System Diseases - Abnormalities, Multiple - Congenital Abnormalities - Congenital, Hereditary, and Neonatal Diseases and Abnormalities - Chromosome Disorders
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Broader term(s): - Nervous System Diseases
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  Medical News for "Rubinstein-Taybi Syndrome"
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See also: - Mental Retardation
Broader term(s): - Mental Retardation - Nervous System Diseases - Congenital Abnormalities
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  Scientific articles from MEDLINE for "Rubinstein-Taybi Syndrome"
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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy

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Subheadings: complications / diagnosis / embryology / epidemiology / etiology / metabolism / microbiology / surgery / therapy


  Broader term(s):
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Genetic Diseases, Inborn
                  Chromosome Disorders 
              Congenital Abnormalities
                  Musculoskeletal Abnormalities
                      Craniofacial Abnormalities 
                  Chromosome Disorders 
      Diseases
          Congenital, Hereditary, and Neonatal Diseases and Abnormalities
              Congenital Abnormalities
                  Abnormalities, Multiple 
      Diseases
          Nervous System Diseases
              Neurologic Manifestations
                  Neurobehavioral Manifestations
                      Mental Retardation 
      Diseases
          Musculoskeletal Diseases
              Musculoskeletal Abnormalities
                  Craniofacial Abnormalities 
              Bone Diseases
                  Bone Diseases, Developmental
                      Dysostoses 

MeSH 2010 © U.S. National Library of Medicine®.

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