Rubinstein-Taybi Syndrome

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).

Also Known As:

Syndrome, Rubinstein-Taybi; Broad Thumb Hallux Syndrome; Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation; Rubinstein Syndrome; Broad Thumb-Hallux Syndromes; Rubinstein Taybi Syndrome; Syndrome, Broad Thumb-Hallux; Syndrome, Rubinstein; Syndromes, Broad Thumb-Hallux; Broad Thumb-Hallux Syndrome

Musculoskeletal Diseases: 719
- Bone Diseases: 5863
  - Developmental Bone Diseases: 153
    - Dysostoses: 91
      - Rubinstein-Taybi Syndrome: 106
- Musculoskeletal Abnormalities: 43
  - Craniofacial Abnormalities: 203
    - Rubinstein-Taybi Syndrome: 106
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - Rubinstein-Taybi Syndrome: 106
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Rubinstein-Taybi Syndrome: 106
  - Chromosome Disorders: 136
    - Rubinstein-Taybi Syndrome: 106
  - Musculoskeletal Abnormalities: 43
    - Craniofacial Abnormalities: 203
      - Rubinstein-Taybi Syndrome: 106
- Inborn Genetic Diseases: 11939
  - Chromosome Disorders: 136
    - Rubinstein-Taybi Syndrome: 106

J P Lopez-Atalaya Selected Research

J P Lopez-Atalaya Research Topics

Disease

Drug/Important Bio-Agent (IBA)