Polyneuropathy-hand defect syndrome

MONDO:0008809

Digital extensor muscle aplasia-polyneuropathy is a rare, hereditary motor and sensory neuropathy characterized by flexion deformities of the thumb and fingers, sensory deficit in the hand and polyneuropathic electrophysiologic findings in the limbs. Operation on the hands reveals extensor muscles and their tendons to be absent or hypoplastic. There have been no further descriptions in the literature since 1986.

Also known as: Hamanishi Ueba Tsuji syndrome, Hamanishi-Ueba-Tsuji syndrome, aplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathy, aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy, congenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathy, congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, digital extensor muscle aplasia-polyneuropathy, polyneuropathy, hand defect

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