ORPHA:199302
Isolated cleft lip
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated cleft lip | |
| fr | Fente labiale isolée | |
| de | Lippenspalte, isolierte | |
| es | Labio leporino aislado | |
| it | Labioschisi isolata | |
| nl | Geïsoleerde gespleten lip | |
| pt | Fenda do lábio isolada | |
| pl | Izolowany rozszczep wargi | |
| cs | Izolovaný rozštěp patra | |
| uk | Ізольована розщілина губи | |
| zh | 单独唇裂 | |
| tr | İzole yarık dudak |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119530 | ND | validated | |
| OMIM | 129400 | NTBT | validated | |
| OMIM | 225060 | NTBT | validated | |
| OMIM | 600757 | ND | validated | |
| OMIM | 602966 | ND | validated | |
| OMIM | 608371 | ND | validated | |
| OMIM | 608874 | BTNT | validated | |
| OMIM | 610361 | ND | validated | |
| OMIM | 612858 | ND | validated | |
| ICD-10 | Q36.0 | BTNT | specific | validated |
| ICD-10 | Q36.1 | BTNT | specific | validated |
| ICD-10 | Q36.9 | BTNT | specific | validated |
| ICD-11 | LA40 | E | specific | validated |
| MONDO | 0016043 | E | validated | |
| UMLS | C1837217 | E | validated | |
| MedDRA | 10009259 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:1991Cleft lip with or without cleft palate
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases
No children.
4
Genes
5 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TAF11 | Disease-causing germline mutation(s) in | Assessed | HGNC:11544 | 6p21.31 | TATA-box binding protein associated factor 11 | 39727181[PMID] | ||
| IRF6 | Major susceptibility factor in | Assessed | HGNC:6121 | ENSG00000117595 | 607199 | 1q32.2 | interferon regulatory factor 6 | 17438386[PMID] |
| MSX1 | Major susceptibility factor in | Assessed | HGNC:7391 | ENSG00000163132 | 142983 | 4p16.2 | msh homeobox 1 | 12807959[PMID] |
| NECTIN1 | Major susceptibility factor in | Assessed | HGNC:9706 | ENSG00000110400 | 600644 | 11q23.3 | nectin cell adhesion molecule 1 | 16674562[PMID] |
| TP63 | Major susceptibility factor in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 16740912[PMID]_21567929[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Validated | Pr Marie-Paule VAZQUEZ[EXPERT]_Dr Eva GALLIANI[EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
19 annotations · validated 2019-07-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000389 | Chronic otitis media | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| Occasional (29-5%) | ||
| HP:0040115 | Abnormality of the Eustachian tube | |
| HP:0000708 | Atypical behavior | |
| HP:0100336 | Bilateral cleft lip | |
| HP:0031469 | Low self esteem | |
| HP:0001572 | Macrodontia | |
| HP:0011438 | Maternal teratogenic exposure | |
| HP:0001518 | Small for gestational age | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0006332 | Supernumerary maxillary incisor | |
| HP:0000220 | Velopharyngeal insufficiency | |
| Very rare (<4-1%) | ||
| HP:0000405 | Conductive hearing impairment | |
| HP:0000668 | Hypodontia | |
| HP:0001561 | Polyhydramnios | |
| HP:0001696 | Situs inversus totalis | |
| HP:0001328 | Specific learning disability | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001537 | Umbilical hernia | |
Annotation source: 19747722[PMID]_20796225[PMID]_22889852[PMID]_26709327[PMID]_27943390[PMID]_30406510[PMID]_26857758[PMID]_30859050[PMID]_26153759[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199302
- This record as JSON: /data/d/199302.json