Rubinstein-Taybi Syndrome
Alternate Names : Rubinstein Syndrome
See all Pictures & Images
Diagnosis & Tests
- hypoplastic (underdeveloped) maxilla (bone in the midface), narrow palate, crowded teeth
- an unsteady or stiff walking gait
-
eyes slant downward
-
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/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
|