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Rubinstein-Taybi syndrome - Symptom

Alternative Names

Rubinstein syndrome, RTS

Symptoms:

Broadening of the thumbs and big toes
Constipation
Excess hair on body (hirsutism)
Heart defects possibly requiring surgery
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

Other signs and symptoms may include:

Absent or extra kidney, and other problems with kidney or bladder
An underdeveloped bone in the midface
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
Thick and arched eyebrows with long eyelashes
Undescended testicle (cryptorchidism), or other testicular problems

Signs and tests:

The health care provider will perform a physical exam. Blood tests and x-rays will be done.

Genetic tests can be done to determine if the genes involved in this disease are missing or changed.

Polydactyly - an infant's hand

Reviewed last on: 8/4/2011
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.

References

Morelli JG. Disorders of the Nails. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 662.

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