ORPHA:3387
Isolated anterior cervical hypertrichosis
Synonyms: Hairy throat syndrome · Tsukahara-Kajii syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare form of localised hypertrichosis characterized by hair growth near the laryngeal prominence during childhood.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated anterior cervical hypertrichosis | Hairy throat syndrome · Tsukahara-Kajii syndrome |
| fr | Hypertrichose cervicale antérieure isolée | Syndrome de Tsukahara-Kajii · Syndrome de la gorge poilue |
| de | Hypertrichose, ventrale zervikale, isolierte | Hairy-throat-Syndrom |
| es | Hipertricosis cervical anterior aislada | |
| it | Ipertricosi cervicale anteriore isolata | Sindrome da irsutismo anteriore del collo · Sindrome di Tsukahara-Kajii |
| nl | Geïsoleerde anterieure cervicale hypertrichose | Hairy throat-syndroom · Syndroom van Tsukahara-Kajii |
| pt | Hipertricose cervical anterior isolada | Síndrome Tsukahara-Kajii |
| pl | Izolowana przednia hipertrichoza szyi | Zespół Tsukahara i Kajii · Zespół owłosionego gardła |
| cs | Izolovaná přední krční hypertrichóza | Syndrom vlasatého hrdla · Tsukaharův-Kajiiho syndrom · Tsukahara-Kajiiho syndrom |
| uk | Ізольований гіпертрихоз передньої поверхні шиї | Синдром волохатого горла · Синдром Цукахара-Каджі |
| zh | 孤立型颈前多毛 | Tsukahara-Kajii综合征 |
| tr | İzole anterior servikal hipertrikoz | Tüylü gırtlak sendromu · Tsukahara-Kajii sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600457 | E | validated | |
| ICD-10 | L68.2 | NTBT | attributed | validated |
| ICD-11 | ED71 | NTBT | attributed | validated |
| MONDO | 0010887 | E | validated | |
| MeSH | C538390 | E | validated | |
| UMLS | C1838123 | E | validated | |
| GARD | 8438 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79365Rare disorder with hypertrichosis
rare genetic diseases; rare skin diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3387
- This record as JSON: /data/d/3387.json