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Disease Rubinstein-Taybi Syndrome

Name Rubinstein-Taybi Syndrome
Synonyms Broad Thumb Hallux Syndrome | Broad Thumb-Hallux Syndrome | Broad Thumb-Hallux Syndromes | Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation | RSTS1 | RSTS2 | Rubinstein Syndrome | Rubinstein Taybi Syndrome | RUBINSTEIN-TAYBI SYNDROME 1 | RUBINSTEIN-TAYBI SYNDROME 2 | Syndrome, Broad Thumb-Hallux | Syndrome, Rubinstein | Syndrome, Rubinstein-Taybi | Syndromes, Broad Thumb-Hallux
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).
Categories Congenital abnormality | Genetic disease (inborn) | Musculoskeletal disease | Nervous system disease
MeSH® ID D012415
OMIM® IDs 180849 | 613684
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Dysostoses Has associated chemicals Has associated genes Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
2. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurologic Manifestations Has associated chemicals Has associated genes Has associated exposure references Neurobehavioral Manifestations Has associated chemicals Has associated genes Has associated exposure references Intellectual Disability Has associated chemicals Has associated genes Has associated exposure references Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Craniofacial Abnormalities Has associated chemicals Has associated genes Has associated exposure references Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
7. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes

Top ↑ Descendants

Rubinstein-Taybi Syndrome Has associated chemicals Has associated genes
  Chromosome 16p13.3 Deletion Syndrome
  Rubinstein Taybi like syndrome