Rubinstein-Taybi syndrome

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Polydactyly - an infant's hand

Rubinstein syndrome

• Broad thumbs and great toes
• Slow development of both cognitive and motor skills with low muscle tone
• Mental retardation
• Short stature that is noticeable after birth
• Excess hair on body (hirsutism)
• Heart defects possibly requiring surgery (about 40% of patients)  
• Constipation

• Hypoplastic (underdeveloped) maxilla (bone in the midface), narrow palate, crowded teeth
• An unsteady or stiff walking gait
• Downward-slanted eyes
• Low-set ears or malformed ears
• Drooping eyelid (ptosis )
• Cataract
• Coloboma (a defect in the iris of the eye)
• Cryptorchidism or other testicular problems
• Macrocephaly (excessively large head) or microcephaly (excessively small head)
• Skeletal (limb) abnormalities including the last segment of the other fingers and toes, appearing broad on x-rays or physical examination
• Thick and arched eyebrows with long eyelashes
• Narrow, small, or recessed mouth with crowded teeth
• Prominent or "beaked" nose
• Absent or extra kidney, and other problems with kidney or bladder
• Genetic or mutation testing, including deletion testing to see if the CREBBP gene is missing

Review Date: 04/20/2005
Reviewed By: Neal Sondheimer, M.D., PhD., Division of Genetics and Metabolism, Children's Hospital of Philadelphia, Philadelphia, PA. Review provided by VeriMed Healthcare Network.