ORPHA:199306
Cleft lip/palate
Synonyms: Alveolar cleft lip and palate · Cleft lip and palate · Cleft lip-alveolus-palate syndrome · FLP
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Multigenic/multifactorial
- Age of onset
- Infancy, Neonatal
- Status
- active
Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft lip/palate | Alveolar cleft lip and palate · Cleft lip and palate · Cleft lip-alveolus-palate syndrome · FLP |
| fr | Fente labio-palatine | FLP · Fente labio-alvéolo-maxillo-palatine · Fente labio-alvéolo-maxillo-vélo-palatine · Fente labio-alvéolo-palatine · Fente labio-maxillo-palatine · Fente labio-maxillo-vélo-palatine |
| de | Lippen-Kiefer-Gaumenspalte | FLP · Lippen-, Oberkiefer- und Gaumenspalte · Lippen-Kiefer-Spalte · Lippengaumenspalte, alveoläre |
| es | Fisura labiopalatina | FLP · Fisura labio-alveolo-palatina |
| it | Labio/palatoschisi | FLP · Labiopalatoschisi alveolare · Schisi labio/alveolo/palatina · Schisi labiopalatina |
| nl | Gespleten lip/verhemelte | Alveolaire gespleten lip en verhemelte · FLP · Gespleten lip - alveolus - verhemelte · Gespleten lip en verhemelte |
| pt | Fenda labial/palatina | |
| pl | Rozszczep wargi/podniebienia | FLP · Rozszczep wargi i podniebienia · Rozszczep wargi-wyrostka zębodołowego-podniebienia · Rozszczep wyrostka zębodołowego, wargi i podniebienia |
| cs | Rozštěp rtu/patra | FLP · Cleft lip and palate · Alveolar cleft lip and palate · Cleft lip-alveolus-palate syndrome · Rozštěp rtu a patra · Alveolární rozštěp rtu a patra · Syndrom rozštěpu rtu, alveolu a patra |
| uk | Розщілина губи/піднебіння | Альвеолярна щілина губи та піднебіння · Розщілина губи та піднебіння · Синдром розщеплення губи-альвеоли-піднебіння · ФОП |
| zh | 唇腭裂 | 唇裂-牙槽突裂-腭裂综合征 |
| tr | Yarık dudak/damak | FLP · Yarık dudak ve damak · Alveolar yarık dudak ve damak · Yarık dudak-alveol-damak sendromu |
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 | 600625 | BTNT | validated | |
| OMIM | 600757 | ND | validated | |
| OMIM | 602966 | ND | validated | |
| OMIM | 608371 | ND | validated | |
| OMIM | 608864 | BTNT | validated | |
| OMIM | 608874 | BTNT | validated | |
| OMIM | 610361 | ND | validated | |
| OMIM | 612858 | ND | validated | |
| OMIM | 613705 | BTNT | validated | |
| OMIM | 616788 | BTNT | validated | |
| OMIM | 618149 | BTNT | validated | |
| OMIM | 618761 | BTNT | validated | |
| ICD-10 | Q37.0 | BTNT | specific | validated |
| ICD-10 | Q37.1 | BTNT | specific | validated |
| ICD-10 | Q37.2 | BTNT | specific | validated |
| ICD-10 | Q37.3 | BTNT | specific | validated |
| ICD-10 | Q37.4 | BTNT | specific | validated |
| ICD-10 | Q37.5 | BTNT | specific | validated |
| ICD-10 | Q37.8 | BTNT | specific | validated |
| ICD-10 | Q37.9 | BTNT | specific | validated |
| ICD-11 | LA40 | BTNT | specific | validated |
| ICD-11 | LA42 | BTNT | specific | validated |
| MONDO | 0016044 | E | validated | |
| UMLS | C0158646 | E | validated | |
| MedDRA | 10009260 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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Genes
13 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DLX4 | Disease-causing germline mutation(s) in | Assessed | HGNC:2917 | ENSG00000108813 | 601911 | 17q21.33 | distal-less homeobox 4 | 25954033[PMID] |
| ARHGAP29 | Major susceptibility factor in | Assessed | HGNC:30207 | ENSG00000137962 | 610496 | 1p22.1 | Rho GTPase activating protein 29 | 27350171[PMID] |
| ARHGEF38 | Major susceptibility factor in | Assessed | HGNC:25968 | ENSG00000236699 | 619919 | 4q24 | Rho guanine nucleotide exchange factor 38 | 36493769[PMID] |
| BMP4 | Major susceptibility factor in | Assessed | HGNC:1071 | ENSG00000125378 | 112262 | 14q22.2 | bone morphogenetic protein 4 | 22978696[PMID] |
| CDH1 | Major susceptibility factor in | Assessed | HGNC:1748 | ENSG00000039068 | 192090 | 16q22.1 | cadherin 1 | 23197654[PMID] |
| COBLL1 | Major susceptibility factor in | Assessed | HGNC:23571 | ENSG00000082438 | 610318 | 2q24.3 | cordon-bleu WH2 repeat protein like 1 | 36493769[PMID] |
| DLG1 | Major susceptibility factor in | Assessed | HGNC:2900 | ENSG00000075711 | 601014 | 3q29 | discs large MAGUK scaffold protein 1 | 28926086[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] |
| PDGFRA | Major susceptibility factor in | Assessed | HGNC:8803 | ENSG00000134853 | 173490 | 4q12 | platelet derived growth factor receptor alpha | 35147171[PMID] |
| RIC1 | Major susceptibility factor in | Assessed | HGNC:17686 | ENSG00000107036 | 610354 | 9p24.1 | RIC1 partner of RAB6A GEF complex | 36493769[PMID] |
| TP63 | Major susceptibility factor in | Assessed | HGNC:15979 | ENSG00000073282 | 603273 | 3q28 | tumor protein p63 | 16740912[PMID]_21567929[PMID] |
5
Prevalence and incidence
4 records| 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] |
| Prevalence at birth | 1-5 / 10 000 | 56 / 100 000 | United States | Value and class | Validated | 25399767[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 98 / 100 000 | France | Value and class | Validated | 1842671[PMID] |
| Prevalence at birth | 6-9 / 10 000 | 80 / 100 000 | Worldwide | Value and class | Validated | 22374000[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.
6
HPO phenotypes
21 annotations · validated 2019-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006292 | Abnormality of dental eruption | |
| Frequent (79-30%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000750 | Delayed speech and language development | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0200136 | Oral-pharyngeal dysphagia | |
| HP:0000202 | Orofacial cleft | |
| HP:0002033 | Poor suck | |
| HP:0000403 | Recurrent otitis media | |
| HP:0009088 | Speech articulation difficulties | |
| HP:0100334 | Unilateral cleft palate | |
| HP:0000220 | Velopharyngeal insufficiency | |
| Occasional (29-5%) | ||
| HP:0011044 | Abnormal number of permanent teeth | |
| HP:0200153 | Agenesis of lateral incisor | |
| HP:0100337 | Bilateral cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000689 | Dental malocclusion | |
| HP:0001611 | Hypernasal speech | |
| HP:0004395 | Malnutrition | |
| HP:0010294 | Palate fistula | |
| HP:0006342 | Peg-shaped maxillary lateral incisors | |
| Very rare (<4-1%) | ||
| HP:0000327 | Hypoplasia of the maxilla | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30136310[PMID]_30396411[PMID]_31058728[PMID]_31071123[PMID]_31075568[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199306
- This record as JSON: /data/d/199306.json