Midline cervical cleft
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare neck malformation characterized by a congenital vertical atrophic and usually erythematous skin defect of variable length, lacking adnexal elements and located along the midline of the anterior neck. It typically presents with a superior skin tag, a midline subcutaneous fibrous cord which is often longer than the overlying skin defect, and an inferior blind sinus from which mucus can be expressed. The length of the defect increases with patients' age. Likewise, the fibrous cord becomes more prominent with age, potentially leading to restriction of neck extension if the malformation is left untreated. Other possible complications include microgenia, exostosis, torticollis, or infection.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Midline cervical cleft | |
| fr | Fente cervicale médiane | |
| de | Mediane Halsspalte | |
| es | Hendidura cervical de la línea media | |
| it | Schisi cervicale della linea mediana | |
| nl | Mediane cervicale splijting | |
| pt | Fenda cervical da linha-média | |
| pl | Pośrodkowy rozszczep szyi | |
| cs | Mediální rozštěp krku | |
| uk | Серединна розщілина шиї | |
| zh | 颈中线裂 | |
| tr | Orta hat servikal yarık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q18.8 | NTBT | attributed | validated |
| ICD-11 | LA51 | NTBT | index | validated |
| MONDO | 0015419 | E | validated | |
| MeSH | C000719407 | E | validated | |
| UMLS | C4479645 | 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:141234Median facial cleft
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141288
- This record as JSON: /data/d/141288.json