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.