Cervical hypertrichosis-peripheral neuropathy syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- historical
A rare genetic syndrome characterized by the association of congenital hypertrichosis in the anterior cervical region with peripheral sensory and motor neuropathy. Associated features may include retinal anomalies, spina bifida, kyphoscoliosis and hallux valgus, and developmental delay (one case). There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cervical hypertrichosis-peripheral neuropathy syndrome | |
| fr | Syndrome d'hypertrichose cervicale-neuropathie périphérique | |
| de | Hypertrichose der Hals-Vorderseite - periphere Neuropathie | |
| es | Síndrome de hipertricosis cervical-neuropatía periférica | |
| it | Ipertricosi cervicale - neuropatia periferica | |
| nl | Cervicale hypertrichose - perifere neuropathie-syndroom | |
| pt | Síndrome de hipertricose cervical-neuropatia periférica | |
| pl | Hipertrichoza szyjna - neuropatia obwodowa | |
| cs | Syndrom zahrnující cervikální hypertrichózu a periferní neuropatii | |
| uk | Синдром гіпертрихозу шийки матки - периферичної нейропатії | |
| zh | 颈部多毛-周围神经病变综合征 | |
| tr | Servikal hipertrikoz-periferik nöropati sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239840 | E | validated | |
| ICD-10 | G60.0 | NTBT | attributed | validated |
| ICD-11 | LD27.3 | NTBT | index | validated |
| MONDO | 0009405 | E | validated | |
| UMLS | C4303793 | E | validated | |
| GARD | 1226 | 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 (3):
- ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; 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 | 4 cases | Worldwide | Case(s) | Validated | 1666396[PMID]_8281287[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1666396[PMID]_8281287[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
6 annotations · validated 2017-07-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001305 | Dandy-Walker malformation | |
| HP:0003457 | EMG abnormality | |
| HP:0002230 | Generalized hirsutism | |
| Frequent (79-30%) | ||
| HP:0002754 | Osteomyelitis | |
| HP:0040165 | Periostitis | |
| HP:0200042 | Skin ulcer | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2218
- This record as JSON: /data/d/2218.json