polyneuropathy-hand defect syndrome
Findings
No curated finding names polyneuropathy-hand defect syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0008809), read 2026-09-29. CC BY 4.0.
Features
9 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal nerve conduction velocityHPOHP:0040129
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the skeletal musculatureHPOHP:0001460
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Impaired pain sensationHPOHP:0007328
- Very frequent (80% to 99% of cases)
- Muscular dystrophyHPOHP:0003560
- Very frequent (80% to 99% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
Where it sits
Other names
2 names
Resolves to: polyneuropathy-hand defect syndrome
- Also called
- Hamanishi Ueba Tsuji syndromeHamanishi-Ueba-Tsuji syndrome