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Rubinstein-Taybi syndrome

Genetics: - autosomal dominant - associated with mutation in gene for CREB binding protein (CREBBP) - associated with defects in EP300 Clinical manifestations: 1) mental retardation 2) broad thumb & great toe 3) antimongoloid slant to eyes 4) thin & beaked nose 5) prominent forehead 6) low-set ears 7) high arched palate with hypoplastic maxilla 8) cardiac anomalies: patent ductus arteriosus (others) Complications: - propensity for development of malignancies

Related

CREB-binding protein; CBP transcriptional coactivator (CREBBP, CBP)

General

developmental disorder genetic syndrome (multisystem disorder)

Database Correlations

OMIM correlations MORBIDMAP 600140

References

  1. Stedman's Medical Dictionary 26th ed, Williams & Wilkins, Baltimore, 1995
  2. OMIM :accession 180849
  3. OMIM :accession 600140