ORPHA:1393
Cerebrocostomandibular syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebrocostomandibular syndrome | |
| fr | Syndrome cérébrocostomandibulaire | |
| de | Zerebro-kosto-mandibuläres Syndrom | |
| es | Síndrome cerebrocostomandibular | |
| it | Sindrome cerebro-costo-mandibolare | |
| nl | Cerebro-costo-mandibulair syndroom | |
| pt | Síndrome cerebro-costo-mandibular | |
| pl | Zespół mózgowo-żebrowo-żuchwowy | |
| cs | Cerebrokostomandibulární syndrom | |
| uk | Цереброкостомандибулярний синдром | |
| zh | 大脑肋骨下颌综合征 | |
| tr | Serebrokostomandibular sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 117650 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.H | NTBT | index | validated |
| MONDO | 0007301 | E | validated | |
| MeSH | C562538 | E | validated | |
| UMLS | C0265342 | E | validated | |
| GARD | 6026 | E | validated | |
| MedDRA | 10088264 | 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 (5):
- ORPHA:93454Dysostosis with predominant vertebral and costal involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SNRPB | Disease-causing germline mutation(s) in | Assessed | HGNC:11153 | ENSG00000125835 | 182282 | 20p13 | small nuclear ribonucleoprotein polypeptides B and B1 | 25047197[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 75 cases | Worldwide | Case(s) | Validated | 20507350[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.
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HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001591 | Bell-shaped thorax | |
| HP:0000175 | Cleft palate | |
| HP:0000347 | Micrognathia | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0030282 | Posterior rib gap | |
| Frequent (79-30%) | ||
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0001522 | Death in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0000162 | Glossoptosis | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0002808 | Kyphosis | |
| HP:0004322 | Short stature | |
| HP:0002779 | Tracheomalacia | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002324 | Hydranencephaly | |
| HP:0002435 | Meningocele | |
| HP:0000252 | Microcephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0002475 | Myelomeningocele | |
| HP:0002132 | Porencephaly | |
| HP:0010290 | Short hard palate | |
| HP:0002414 | Spina bifida | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000465 | Webbed neck | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1393
- This record as JSON: /data/d/1393.json