polyneuropathy-hand defect syndrome
http://purl.obolibrary.org/obo/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. [ Orphanet:2926 ]
Term info
- OMIM:207740 (Orphanet:2926/e)
- UMLS:C2930955 (Orphanet:2926)
- MESH:C535624 (MONDO:equivalentTo)
- Orphanet:2926 (OMIM:207740)
- GARD:0002589 (MONDO:equivalentTo)
gard_rare, ordo_malformation_syndrome
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.
https://omim.org/entry/207740, http://identifiers.org/mesh/C535624, http://linkedlifedata.com/resource/umls/id/C2930955, http://purl.obolibrary.org/obo/Orphanet_2926
Hamanishi-Ueba-Tsuji syndrome, Hamanishi Ueba Tsuji syndrome
congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, polyneuropathy, hand defect, digital extensor muscle aplasia-polyneuropathy, aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy
MONDO:0008809
https://rarediseases.info.nih.gov/diseases/2589/hamanishi-ueba-tsuji-syndrome