Upper Limb Defect-Eye And Ear Abnormalities Syndrome

Upper limb defect - eye and ear abnormalities syndrome associates upper limb defects (hypoplastic thumb with hypoplasia of the metacarpal bone and phalanges and delayed bone maturation), developmental delay, central hearing loss, unilateral poorly developed antihelix, bilateral choroid coloboma and growth retardation.

Epidemiology

This syndrome has been reported in two sibs.

Genetic counseling

The inheritance is probably autosomal recessive.