Digital extensor muscle aplasia-polyneuropathy
historical
Synonyms: Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy · Hamanishi-Ueba-Tsuji syndrome · Polyneuropathy-hand defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- historical
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Digital extensor muscle aplasia-polyneuropathy | Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy · Hamanishi-Ueba-Tsuji syndrome · Polyneuropathy-hand defect syndrome |
| fr | Aplasie des muscles extenseurs des doigts et pouce-polyneuropathie | Syndrome de Hamanishi-Ueba-Tsuji · Syndrome de polyneuropathie-camptodactylie |
| de | Aplasie der Fingerstrecker mit Polyneuropathie | Hamanishi-Ueba-Tsuji-Syndrom · Kongenitale Aplasie der Streckmuskeln von Finger und Daumen mit assoziierter generalisierter Polyneuropathie · Polyneuropathie-Handfehlbildung-Syndrom |
| es | Aplasia de los músculos extensores de los dedos-polineuropatía | Aplasia congénita de los músculos extensores de los dedos asociada a polineuropatía generalizada · Síndrome de Hamanishi-Ueba-Tsuji · Síndrome de polineuropatía-defecto de la mano |
| it | Aplasia dei muscoli estensori delle dita e polineuropatia | Sindrome di Hamanishi-Ueba-Tsuji |
| nl | Aplasie van vingerextensoren - polyneuropathie | Congenitale aplasie van strekspieren van vingers en duim geassocieerd met gegeneraliseerde polyneuropathie · Polyneuropathie - handdefect-syndroom · Syndroom van Hamanishi-Ueba-Tsuji |
| pt | Aplasia do músculo extensor digital-polineuropatia | Polineuropatia-anomalias das mãos · Síndrome Hamanishi-Ueba-Tsuji |
| pl | Aplazja mięśni prostowników palców - polineuropatia | Zespół Hamanishi, Ueba i Tsuji |
| cs | Syndrom zahrnující polyneuropatii a defekt ruky | Hamanishiové-Uebaův-Tsujiho syndrom · Hamanishi-Ueba-Tsujiho syndrom |
| uk | Аплазія мязів-розгиначів пальців кисті з полінейропатією | Вроджена аплазія мязів-розгиначів пальців кисті та великого пальця, повязана з генералізованою полінейропатією · Синдром Хаманіші-Уеба-Цудзі · Синдром полінейропатії - дефекту кисті |
| zh | 指伸肌发育不良-多发性神经病 | 多发性神经病-手部缺陷综合征 |
| tr | Dijital ekstansör kas aplazisi-polinöropati | Jeneralize polinöropati ile ilişkili parmakların ve başparmağın ekstansör kaslarının Doğumsal aplazisi · Hamanishi-Ueba-Tsuji sendromu · Polinöropati-el defekti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207740 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008809 | E | validated | |
| MeSH | C535624 | E | validated | |
| UMLS | C2930955 | E | validated | |
| GARD | 2589 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:166Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 3459358[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3459358[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2017-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040129 | Abnormal nerve conduction velocity | |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0007328 | Impaired pain sensation | |
| HP:0003560 | Muscular dystrophy | |
| HP:0003202 | Skeletal muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0004370 | Abnormality of temperature regulation | |
| HP:0002046 | Heat intolerance | |
| HP:0000966 | Hypohidrosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2926
- This record as JSON: /data/d/2926.json