Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

 

Video details

Do Not Remove This Text

Related Content


 

Rubinstein-Taybi syndrome - Symptom

Alternative Names

Rubinstein syndrome

Symptoms:

  • 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

Signs and tests:

Examination and testing may reveal:

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

  • Reviewed last on: 7/1/2007
  • Brian Kirmse, MD, Mount Sinai School of Medicine, Department of HumanGenetics, New York, NY. Review provided by VeriMed Healthcare Network.