Familial median cleft of the upper and lower lips
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare developmental defect during embryogenesis characterized by incomplete median clefts of both the lower lip (limited to the vermilion, with no muscle involvement) and upper lip (with muscle involvement), double labial frenulum and fusion of the upper gingival and upper labial mucosa (resulting in a shallow upper vestibular fold), in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial median cleft of the upper and lower lips | |
| fr | Fente labiale médiane supérieure et inférieure, forme familiale | |
| de | Mediane Spalte der Ober- und Unterlippe, familiäre Form | |
| es | Hendidura media del labio superior e inferior familiar | |
| it | Schisi mediana familiare del labbro superiore e inferiore | |
| nl | Familiale mediane schisis van boven- en onderlip | Familiale mediaan gespleten boven- en onderlip |
| pt | Fenda mediana do lábio superior e inferior, forma familiar | |
| pl | Rodzinny przyśrodkowy rozszczep górnej i dolnej wargi | |
| cs | Familiární mediánní rozštěp horního a spodního rtu | |
| uk | Сімейна серединна розщілина верхньої та нижньої губи | |
| zh | 家族性上下唇正中裂 | |
| tr | Üst ve alt dudakların ailesel medyan yarığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615892 | E | validated | |
| ICD-10 | Q36.1 | NTBT | attributed | validated |
| MONDO | 0014388 | E | validated | |
| UMLS | C4305376 | 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 (2):
- ORPHA:414726Genetic facial cleft
rare genetic diseases - 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 | 8 cases | Worldwide | Case(s) | Validated | 23860042[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23860042[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
10 annotations · validated 2016-11-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000309 | Abnormal midface morphology | |
| HP:3000010 | Abnormality of orbicularis oris muscle | |
| HP:0000277 | Abnormality of the mandible | |
| HP:0000326 | Abnormality of the maxilla | |
| HP:0010281 | Cleft lower lip | |
| HP:0000204 | Cleft upper lip | |
| HP:0000699 | Diastema | |
| HP:0012292 | Fusion of gums | |
| HP:0040079 | Irregular dentition | |
| HP:0000161 | Median cleft lip | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 23860042[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/401942
- This record as JSON: /data/d/401942.json