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Rubinstein Taybi Syndrome

Abstract

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Synonyms of Rubinstein Taybi Syndrome

  • Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation
  • Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome
  • RSTS
  • Rubinstein syndrome
  • Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Rubinstein-Taybi syndrome is a rare genetic multisystem disorder that affects many organ systems of the body. The group of findings (constellation) associated with this syndrome include 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. In addition, most affected children experience delays in attaining developmental milestones (e.g., sitting, crawling, walking, talking, etc.) and/or delays in the acquisition of skills requiring coordination of muscular and mental activity (psychomotor retardation). Additional craniofacial abnormalities may include an abnormally small head (microcephaly); a highly-arched roof of the mouth (palate); an unusually small (hypoplastic) lower jaw (micrognathia); crossed eyes (strabismus); droopy eyelids (ptosis); downwardly slanting eyelid folds (palpebral fissures); and/or an extra fold of skin on either side of the nose that may cover the eyes' inner corners (epicanthal folds). In addition, many individuals with Rubinstein-Taybi syndrome may have malformations of the heart, kidneys, urogenital system, and/or skeletal system. In most cases, the skin is also affected. The range and severity of symptoms and physical findings may vary widely from case to case. Most cases of Rubinstein-Taybi syndrome occur randomly, for no apparent reason (sporadic).

Organizations related to Rubinstein Taybi Syndrome

(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., craniofacial abnormalities, short stature, mental retardation, etc.].)

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