Cleft palate-congenital heart defect-intellectual disability syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital heart defect (including atrial or ventricular septal defects and aortic coarctation), cleft palate, and variable degree of developmental delay and intellectual disability. Most patients reported to also have an autism spectrum disorder. Overlapping facial features were reported in some patients including broad forehead with high anterior hairline, finely arched eyebrows, short philtrum, thin or tented upper lip. Other clinical features may involve mild distal skeletal abnormalities, hypotonia, hearing loss, feeding problems and skin abnormalities.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft palate-congenital heart defect-intellectual disability syndrome | |
| fr | Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine | |
| de | Gaumenspalte-kongenitaler Herzfehler-Intelligenzminderung-Syndrom | |
| es | Síndrome de paladar hendido-defecto cardíaco congénito-discapacidad intelectual | |
| it | Sindrome palatoschisi-cardiopatia congenita-disabilità intellettiva | |
| nl | Gespleten gehemelte - congenitaal hartdefect - intellectuele achterstand-syndroom | |
| pt | Síndrome de fenda palatina-anomalia cardíaca congénita-perturbação do desenvolvimento intelectual | |
| pl | Zespół z rozszczepem podniebienia i niepełnosprawnością intelektualną | |
| cs | Syndrom zahrnující rozštěp patra, vrozenou srdeční vadu a mentální retardaci | |
| uk | Синдром розщілини піднебіння-вродженої вади серця-інтелектуальної недостатності |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0958091 | E | validated | |
| MONDO | 958091 | E | validated | |
| UMLS | C5924219 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| MEIS2 | ORPHA:652514Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:7001 | ENSG00000134138 | 601740 | 15q14 | Meis homeobox 2 | 30055086[PMID] |
| MEIS2 | ORPHA:261190Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion | Role in the phenotype of | Assessed | HGNC:7001 | ENSG00000134138 | 601740 | 15q14 | Meis homeobox 2 | 21504564[PMID]_20425846[PMID]_18561338[PMID]_18458017[PMID]_17163532[PMID]_24678003[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/652519
- This record as JSON: /data/d/652519.json