ORPHA:139039
Orofacial clefting syndrome
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Orofacial clefting syndrome | |
| fr | Syndrome avec fente oro-faciale | |
| de | Orofaziale Spaltbildung | |
| es | Síndrome de hendidura orofacial | |
| it | Sindrome della schisi orofacciale | |
| nl | Orofaciale schisis-syndroom | |
| pt | Síndrome de fenda orofacial | |
| pl | Zespół rozszczepu ustno-twarzowego | |
| cs | Syndromy s orofaciálními rozštěpy | |
| uk | Синдром розщеплення лицьового черепа | |
| zh | 口面部裂综合征 | |
| tr | Orofasiyal yarık sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15335 | E | validated | |
| UMLS | C5680616 | E | validated | |
| GARD | 19908 | 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 (2):
- ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
Children (72):
- ORPHA:916Aase-Smith syndrome type 1
- ORPHA:920Ablepharon macrostomia syndrome
- ORPHA:921Abruzzo-Erickson syndrome
- ORPHA:2008Acrocardiofacial syndrome
- ORPHA:77300Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:1226Bamforth-Lazarus syndrome
- ORPHA:1241Bencze syndrome
- ORPHA:140963Bilateral microtia-deafness-cleft palate syndrome
- ORPHA:1997Blepharo-cheilo-odontic syndrome
- ORPHA:1297Branchio-oculo-facial syndrome
- ORPHA:1358Carey-Fineman-Ziter syndrome
- ORPHA:508476Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
- ORPHA:2003Cleft lip/palate-deafness-sacral lipoma syndrome
- ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndrome
- ORPHA:2001Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
- ORPHA:2013Cleft palate-large ears-small head syndrome
- ORPHA:2016Cleft palate-lateral synechia syndrome
- ORPHA:2015Cleft palate-short stature-vertebral anomalies syndrome
- ORPHA:1484Contractures-ectodermal dysplasia-cleft lip/palate syndrome
- ORPHA:1512Crane-Heise syndrome
- ORPHA:124Diamond-Blackfan anemia
- ORPHA:1779Dysmorphism-cleft palate-loose skin syndrome
- ORPHA:2476Dysraphism-cleft lip/palate-limb reduction defects syndrome
- ORPHA:1988Femoral-facial syndrome
- ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- ORPHA:2854Fuhrmann syndrome
- ORPHA:2075Genitopalatocardiac syndrome
- ORPHA:66629Goldberg-Shprintzen megacolon syndrome
- ORPHA:376Gordon syndrome
- ORPHA:1415Hardikar syndrome
- ORPHA:2117Hartsfield syndrome
- ORPHA:2167Holzgreve syndrome
- ORPHA:2189Hydrolethalus
- ORPHA:2213Hypertelorism-microtia-facial clefting syndrome
- ORPHA:2319Juberg-Hayward syndrome
- ORPHA:2328Kapur-Toriello syndrome
- ORPHA:503Larsen syndrome
- ORPHA:2736Lethal omphalocele-cleft palate syndrome
- ORPHA:2432Macrosomia-microphthalmia-cleft palate syndrome
- ORPHA:91494Macular coloboma-cleft palate-hallux valgus syndrome
- ORPHA:79113Mandibulofacial dysostosis-microcephaly syndrome
- ORPHA:564Meckel syndrome
- ORPHA:2631Mesomelic dwarfism-cleft palate-camptodactyly syndrome
- ORPHA:2511Microbrachycephaly-ptosis-cleft lip syndrome
- ORPHA:2521Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
- ORPHA:168572Native American myopathy
- ORPHA:2714Oculo-palato-cerebral syndrome
- ORPHA:1794Oculomaxillofacial dysostosis
- ORPHA:2723Odontotrichomelic syndrome
- ORPHA:660021Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
- ORPHA:2825PARC syndrome
- ORPHA:1993Pai syndrome
- ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
- ORPHA:2888Pierre Robin syndrome-faciodigital anomaly syndrome
- ORPHA:1388Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome
- ORPHA:3021RAPADILINO syndrome
- ORPHA:3102Richieri Costa-Pereira syndrome
- ORPHA:3103Roberts syndrome
- ORPHA:3104Robin sequence-oligodactyly syndrome
- ORPHA:163649Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- ORPHA:3263Syngnathia-cleft palate syndrome
- ORPHA:3316Thomas syndrome
- ORPHA:3329Tibial aplasia-ectrodactyly syndrome
- ORPHA:3338Toriello-Carey syndrome
- ORPHA:1473Uveal coloboma-cleft lip and palate-intellectual disability
- ORPHA:3424Velo-facial-skeletal syndrome
- ORPHA:3201Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
- ORPHA:3429Verloove Vanhorick-Brubakk syndrome
- ORPHA:2804W syndrome
- ORPHA:3448Weaver-Williams syndrome
- ORPHA:324601X-linked cleft palate and ankyloglossia
Codes that Orphanet moved or referred to this one:
- ORPHA:2894OBSOLETE: Pilotto syndrome referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139039
- This record as JSON: /data/d/139039.json