Digital extensor muscle aplasia-polyneuropathy

Orpha code: 2926OMIM code: 207740

Definicja

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.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy
Zespół Hamanishi, Ueba i Tsuji
Hamanishi-Ueba-Tsuji syndrome
Polyneuropathy-hand defect syndrome
Kod ORPHA
2926
Kod OMIM
207740
Kod ICD10
Q87.8
Kod ICD11
-

No additional description.

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