Rubinstein-Taybi syndrome

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Polydactyly - an infant's hand

Rubinstein syndrome

• Broadening of the thumbs and big toes
• Constipation
• Excess hair on body (hirsutism)
• Heart defects possibly requiring surgery (about 30% of patients)
• Mental retardation
• Seizures
• Short stature that is noticeable after birth
• Slow development of cognitive skills
• Slow development of motor skills accompanied by low muscle tone

Examination and testing may reveal:

• Absent or extra kidney, and other problems with kidney or bladder
• An underdeveloped bone in the midface
• Narrow palate
• Crowded teeth
• Unsteady or stiff walking gait
• Downward-slanted eyes
• Low-set ears or malformed ears
• Drooping eyelid (ptosis)
• Cataracts
• Coloboma (a defect in the iris of the eye)
• Macrocephaly (excessively large head) or microcephaly (excessively small head)
• Narrow, small, or recessed mouth with crowded teeth
• Prominent or "beaked" nose
• 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
• Undescended testicle (cryptorchidism), or other testicular problems

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Genetic tests can be done to determine if the CREBBP gene is missing.

Review Date: 08/26/2009
Reviewed By: Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org).