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Start free with EleplanDigital extensor muscle aplasia-polyneuropathy
ORPHA:2926Malformation syndrome
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
What it is
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.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal
- Classified as
- Malformation syndrome
Recorded for the broader condition
- Inheritance
- Autosomal dominant, Autosomal recessive, X-linked dominant, X-linked recessiveCharcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
6These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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