Median nodule of the upper lip
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare familial facial anomaly characterized by a nodule beneath the vermilion border of the upper lip that tapered into the frenulum. The lesion is soft, easily compressible and asymptomatic. It can be wide (up to 8 mm) or flat and less prominent. Regression of the nodule by age has been reported. There have been no further descriptions in the literature since 1994.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Median nodule of the upper lip | |
| fr | Nodule de la lèvre supérieure | |
| de | Medianes Knötchen der Oberlippe | |
| es | Nódulo mediano del labio superior | |
| it | Nodulo del labbro superiore | |
| nl | Mediane nodulus van bovenlip | Knobbel op midden van bovenlip |
| pt | Nódulo mediano do lábio superior | |
| pl | Guzek pośrodkowy górnej wargi | |
| cs | Mediánní nodulus horního rtu | |
| uk | Серединний вузлик верхньої губи | |
| zh | 上唇正中结节 | |
| tr | Üst dudak medyan nodülü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 151630 | E | validated | |
| ICD-10 | Q18.8 | NTBT | attributed | validated |
| MONDO | 0007904 | E | validated | |
| UMLS | C1835396 | E | validated | |
| GARD | 3440 | 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:155832Rare head and neck malformation
rare developmental anomalies during embryogenesis
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 | 4 families | Worldwide | Family(ies) | Validated | 8030663[PMID]_1068420[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 8030663[PMID]_1068420[PMID]_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/2699
- This record as JSON: /data/d/2699.json