Cleft palate-lateral synechia syndrome
Synonyms: CPLS syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cleft palate-lateral synechia syndrome (CPLS) is a congenital malformation syndrome characterized by the association of cleft palate and intra-oral lateral synechiae connecting the free borders of the palate and the floor of the mouth. CPLS is presumed to be inherited in an autosomal dominant manner.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft palate-lateral synechia syndrome | CPLS syndrome |
| fr | Syndrome de fente palatine-synéchies latérales | Syndrome CPLS |
| de | Gaumenspalte-Laterale Synechie-Syndrom | CPLS-Syndrom |
| es | Síndrome de paladar hendido-sinequias laterales | Síndrome CPLS |
| it | Sindrome palatoschisi-sinechie laterali | Sindrome CPLS |
| nl | Gespleten verhemelte - laterale synechie-syndroom | CPLS-syndroom |
| pt | Síndrome de fenda palatina-sinéquia lateral | |
| pl | Zespół rozszczepu podniebienia i zrostów bocznych | Zespół CplS |
| cs | Syndrom zahrnující rozštěp patra a laterální synechie | CPSL syndrom |
| uk | Синдром розщілини піднебіння-латеральної синехії | Синдром CPLS |
| zh | 腭裂-外侧虹膜粘连综合征 | CPLS 综合征 |
| tr | Damak yarığı-lateral sineşi sendromu | CPLS sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119550 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0007337 | E | validated | |
| MeSH | C563047 | E | validated | |
| UMLS | C0795898 | E | validated | |
| GARD | 1391 | 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 (3):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
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 | 11 cases | Worldwide | Case(s) | Validated | 19368978[PMID]_24163560[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| Frequent (79-30%) | ||
| HP:0001608 | Abnormality of the voice | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000347 | Micrognathia | |
| HP:0010285 | Oral synechia | |
| Occasional (29-5%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000293 | Full cheeks | |
| HP:0000160 | Narrow mouth | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2016
- This record as JSON: /data/d/2016.json