Median cleft lip/mandible
Synonyms: Median cleft lower facial stage · Median cleft of the lower lip and mandible · Median mandibular cleft
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare median facial cleft characterized by median cleft of the lower lip (ranging in extent from a notch in the vermilion to a complete cleft involving the tongue, lower lip, and chin, and extending to the cervical region), median cleft of the mandible (ranging from notching to a complete cleft), and anomaly of the tongue including bifid tongue and tongue tie. Associated features in severe cases may include absent hyoid, thyroid cartilage, and manubrium sterni, as well as atrophic neck muscles.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Median cleft lip/mandible | Median cleft lower facial stage · Median cleft of the lower lip and mandible · Median mandibular cleft |
| fr | Fente médiane labio-mandibulaire | Fente mandibulaire médiane · Fente médiane de l'étage inférieur de la face |
| de | Mediane Spalte der Unterlippe und des Unterkiefers | Mediane Spalte im unteren Gesichtsbereich · Mediane Unterkieferspalte |
| es | Hendidura media de labio/mandíbula | Hendidura mandibular media · Hendidura mandibular y del labio inferior en la línea media · Hendidura media de la parte inferior de la cara · Hendidura media del labio inferior y la mandíbula |
| it | Schisi mediana del labbro/mandibola | Schisi mediana della porzione inferiore del viso · Schisi mediana del labbro inferiore e della mandibola · Schisi mediana della mandibola |
| nl | Mediane schisis van lip/mandibula | Mediaan gespleten lip/mandibule · Mediane mandibulaire spleet · Mediane schisis van onderlip en onderkaak · Mediane schisis van onderste gelaatshelft |
| pt | Fenda mediana do lábio inferior | |
| pl | Pośrodkowy rozszczep wargi/żuchwy | Pośrodkowy rozszczep dolnej części twarzy |
| cs | Mediánní rozštěp rtu/mandibuly | Mediánní rozštěp dolní obličejové etáže |
| uk | Середня розщілина губи/нижньої щелепи | Середня стадія розщілини нижньої частини обличчя |
| zh | 正中唇裂/下颌裂 | 面下部正中裂 |
| tr | Medyan yarık dudak / mandibula | Medyan yarık alt fasiyal evresi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q36.1 | NTBT | attributed | validated |
| ICD-11 | LA51 | NTBT | index | validated |
| MONDO | 0016062 | E | validated | |
| UMLS | C4518460 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2006
- This record as JSON: /data/d/2006.json