Ulna Hypoplasia-Intellectual Disability Syndrome

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Retrieved
2021-01-23
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Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.

Epidemiology

It has been reported in two sibs.

Genetic counseling

The family is suggestive of autosomal recessive inheritance.

Prognosis

Prognosis is poor.