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Rubinstein-Taybi syndrome due to CREBBP mutations

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Description

Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.

GeneReviews

  • Mode of Inheritance

  • Autosomal dominant inheritance
  • Sporadic
  • Heterogeneous

VARIANTS

176

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Genes

External Links

  • OMIM

    180849

  • Orphanet

    353277

  • HPO
  • Medgen

    C4551859

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