/polyneuropathy-hand defect syndrome

polyneuropathy-hand defect syndrome

Rare Disease

MONDO:0008809

Also Known As

Hamanishi Ueba Tsuji syndromeHamanishi-Ueba-Tsuji syndromeaplasia of extensor muscles of fingers, unilateral, with generalised polyneuropathyaplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathycongenital aplasia of the extensor muscles of the fingers and thumb associated with generalised polyneuropathycongenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathydigital extensor muscle aplasia-polyneuropathypolyneuropathy, hand defect

Definition

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.