Rubinstein-Taybi syndrome

Causes and Risks:
Rubinstein-Taybi syndrome is a rare condition that may be genetic in nature but whose heritability has not been demonstrated. The classic finding is broad thumbs and great toes but the condition is manifested by many other findings including short stature , a peculiar face, low-set ears , port-wine-stain, undescended testicles in the male, and downward slant of the eyes.

Prevention:
There is no known prevention for this rare disorder.

Symptoms:



Signs and Tests:



Treatment:
There is no specific treatment for Rubinstein-Taybi syndrome. Symptoms such as mental retardation are treated as necessary. Treatment may not be necessary in all cases.

Prognosis:
The outcome depends on the symptoms exhibited.

Complications:
Complications vary depending on the symptoms that are present.

Call Your Healthcare Provider:
There may be signs of this condition at birth. Call for an appointment with your health care provider if you child does not seem to be developing normally.


Extra digits may be present as an isolated finding, or they may occur as part of a syndrome, in which case other abnormalities are usually present. The most common form of polydactyly is an extra little finger.