Median cleft of the upper lip and maxilla
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare median facial cleft characterized by a midline vertical cleft through the upper lip and premaxillary bone, which is highly variable in its extent and may also involve the nasal septum and central nervous system. Depending on the severity of the defect, associated manifestations include atrophy of midline structures, hypo-/hypertelorism, monophthalmia, proboscis, nasal deformity, median alveolar cleft, and short upper frenulum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Median cleft of the upper lip and maxilla | |
| fr | Fente médiane labio-maxillaire | Fente médiane de l'étage moyen de la face |
| de | Mediane Spalte der Oberlippe und des Oberkiefers | |
| es | Hendidura mediana en labio superior y maxila | Hendidura de la parte media de la cara en estado medio · Hendidura mediofacial en línea media |
| it | Schisi mediana del labbro superiore e della mascella | |
| nl | Mediane spleet van bovenlip en maxilla | |
| pt | Fenda labio-maxilar mediana | |
| pl | Pośrodkowy rozszczep górnej wargi i szczęki | |
| cs | Mediální rozštěp horního rtu a maxily | |
| uk | Серединна розщілина верхньої губи та верхньої щелепи | |
| zh | 上唇和上颌正中裂 | |
| tr | Üst dudak ve maksillanın orta yarığı |
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 | 0015413 | E | validated | |
| UMLS | C3697381 | 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/141239
- This record as JSON: /data/d/141239.json