Rubinstein-Taybi syndrome (broad thumb-hallux syndrome).
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).
Hsiung
Sherry H
SH
Ronald O. Perelman Department of Dermatology, New York University, USA.
D002675:Child, Preschool; D005260:Female; D006801:Humans; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis*