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Rubinstein-Taybi syndrome
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Alternative Names:
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| Rubinstein syndrome |
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Symptoms:
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- Broad thumbs and great toes
- Slow development of both cognitive and motor skills with low muscle tone
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Mental retardation
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Short stature that is noticeable after birth
- Excess hair on body (hirsutism)
- Heart defects possibly requiring surgery (about 40% of patients)
- Constipation
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Signs and tests:
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- Hypoplastic (underdeveloped) maxilla (bone in the midface), narrow palate, crowded teeth
- An unsteady or stiff walking gait
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Downward-slanted eyes
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Low-set ears or malformed ears
- Drooping eyelid (ptosis )
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Cataract
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Coloboma (a defect in the iris of the eye)
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Cryptorchidism or other testicular problems
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Macrocephaly (excessively large head) or microcephaly (excessively small head)
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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
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