ORPHA:2926
Digital extensor muscle aplasia-polyneuropathy
Also called Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy, Hamanishi-Ueba-Tsuji syndrome, Polyneuropathy-hand defect syndrome
- Body system
- Neurological diseases
- Inheritance pattern
- Not documented in Orphadata
- Typical age of onset
- Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:2926 is classified under "Neurological diseases" in the Orphanet nomenclature.
Common signs
- Aplasia/Hypoplasia involving the skeletal musculature
- Skeletal muscle atrophy
- Muscular dystrophy
- Impaired pain sensation
- Abnormal nerve conduction velocity
- Camptodactyly of finger