ORPHA:1458
CODAS syndrome
Synonyms: Cerebrooculodentoauriculoskeletal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the co-occurrence of Cerebral, Ocular, Dental, Auricular and Skeletal anomalies (acronym CODAS). CODAS syndrome was first reported and named in 1991. As more patients were described, the phenotype was found to be highly variable; patients do not always present with all the aforementioned features.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | CODAS syndrome | Cerebrooculodentoauriculoskeletal syndrome |
| fr | Syndrome CODAS | Syndrome cérébrooculodentoauriculosquelettique |
| de | CODAS-Syndrom | Zerebro-okulo-dento-aurikulo-skelettales Syndrom |
| es | Síndrome CODAS | Síndrome cerebro-óculo-dento-auriculo-esquelético |
| it | Sindrome CODAS | Sindrome cerebro-oculo-dento-auricolo-scheletrica |
| nl | CODAS-syndroom | Cerebro-oculodentoauriculoskeletaal syndroom |
| pt | Síndrome CODAS | Síndrome cerebro-óculo-dento-auriculo-ósseo |
| pl | Zespół CODAS | Zespół mózgowo-oczno-zębowo-uszno-szkieletowy |
| cs | CODAS syndrom | Cerebrookulodentoaurikuloskeletální syndrom |
| uk | Синдром CODAS | Цереброокулодентоаурикулоскелетний синдром |
| zh | CODAS综合征 | 脑-眼-牙-耳-骨骼综合征 |
| tr | CODAS sendromu | Serebrookülodentoauriküloskeletal sendrom |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600373 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010879 | E | validated | |
| MeSH | C536434 | E | validated | |
| UMLS | C1838180 | E | validated | |
| GARD | 1418 | 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 (7):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LONP1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9479 | ENSG00000196365 | 605490 | 19p13.2 | lon peptidase 1, mitochondrial | 25574826[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 26 cases | Worldwide | Case(s) | Validated | 25574826[PMID]_20503327[PMID]_ORPHANET | |
| 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
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006482 | Abnormal dental morphology | |
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0003417 | Coronal cleft vertebrae | |
| HP:0009901 | Crumpled ear | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0001263 | Global developmental delay | |
| HP:0004122 | Midline defect of the nose | |
| HP:0000396 | Overfolded helix | |
| HP:0010049 | Short metacarpal | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000508 | Ptosis | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0001600 | Abnormality of the larynx | |
| HP:0005242 | Extrahepatic biliary duct atresia | |
| HP:0000072 | Hydroureter | |
| HP:0000639 | Nystagmus | |
| HP:0000486 | Strabismus | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1458
- This record as JSON: /data/d/1458.json