Rubinstein-Taybi syndrome (broad thumb-hallux syndrome)

Dermatol Online J. 2004 Nov 30;10(3):2.

Abstract

Rubinstein-Taybi syndrome is a rare genodermatosis with characteristic features that include downward sloping palphebral fissures, broad thumbs and halluces, and mental retardation. Dermatologic manifestations include capillary malformations, keloid formation, and pilomatricomas. Systemic features may involve the cardiac, audiologic, ophthalmologic, endocrine, neurologic, and respiratory systems. The syndrome is sporadic in nature and has been linked to microdeletion at 16p13.3 encoding CREB-binding protein gene (CREBBP).

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Humans
  • Rubinstein-Taybi Syndrome / diagnosis*