ORPHA:141291
Cleft lip and alveolus
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft lip and alveolus | |
| fr | Fente labio-alvéolaire | Fente labio-maxillaire |
| de | Lippenspalte mit Spalte des alveolären Anteils | |
| es | Fisura labioalveolar | |
| it | Schisi labio-alveolare | |
| nl | Schisis van lip en alveole | Gespleten lip en tandkas |
| pt | Fenda lábio-alveolar | |
| pl | Rozszczep wargi i wyrostka zębodołowego | |
| cs | Rozštěp rtu a zubního lůžka | |
| uk | Розщілина губи та альвеолярного відростка | |
| zh | 唇裂和齿槽裂 | |
| tr | Yarık dudak ve alveolus |
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 | LA41 | E | specific | validated |
| MONDO | 0015420 | E | validated | |
| UMLS | C1298692 | 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
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| 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 | |
| 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 | 6-9 / 10 000 | — | Europe | Class only | Not yet 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.
6
HPO phenotypes
12 annotations · validated 2019-06-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100267 | Lip pit | |
| Frequent (79-30%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0000271 | Abnormality of the face | |
| HP:0005324 | Disturbance of facial expression | |
| HP:0001611 | Hypernasal speech | |
| HP:0005216 | Impaired mastication | |
| HP:0009088 | Speech articulation difficulties | |
| Occasional (29-5%) | ||
| HP:0000419 | Abnormality of the nasal septum | |
| HP:0002015 | Dysphagia | |
| HP:0000668 | Hypodontia | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 23139511[PMID]_20796225[PMID]_30970062[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/141291
- This record as JSON: /data/d/141291.json