ORPHA:1308
C syndrome
Synonyms: OTCS · Opitz C trigonocephaly · Opitz trigonocephaly C syndrome · Opitz trigonocephaly syndrome · Trigonocephaly C syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | C syndrome | OTCS · Opitz C trigonocephaly · Opitz trigonocephaly C syndrome · Opitz trigonocephaly syndrome · Trigonocephaly C syndrome |
| fr | Syndrome C | OTCS · Syndrome d'Opitz-trigonocéphalie · Trigonocéphalie C d'Opitz |
| de | C-Syndrom | OTCS · Opitz-C-Trigonozephalie · Opitz-Trigonozephalie-C-Syndrom · Opitz-Trigonozephalie-Syndrom · Trigonozephalie-C-Syndrom · Trigonozephalus-Syndrom Typ Opitz |
| es | Síndrome C | OTCS · Síndrome de trigonocefalia C · Síndrome de trigonocefalia C de Opitz · Síndrome de trigonocefalia de Opitz · Trigonocefalia C de Opitz |
| it | Sindrome C | OTCS · Sindrome da trigonocefalia C · Sindrome da trigonocefalia C di Opitz · Sindrome da trigonocefalia di Opitz · Trigonocefalia C di Opitz |
| nl | C-syndroom | OTCS · Opitz C-trigonocefalie · Opitz trigonocefalie C-syndroom · Opitz trigonocefaliesyndroom · Trigonocefalie C-syndroom |
| pt | Síndrome C | Síndrome trigonocefalia de Opitz |
| pl | Zespół C | OTCS · Zespół trigonocefalii C · Zespół trigonocefalii Opitza |
| cs | C syndrom | OTCS · Opitzova C trigonocefalie · Syndrom Opitzovy C trigonocefalie · Syndrom Opitzovy trigonocefalie · Syndrom C trigonocefalie |
| uk | Синдром С | Тригоноцефалія Опітца С · Синдром тригоноцефалії С Опітца · Синдром тригоноцефалії Опітца · OTCS · Синдром тригоноцефалії С |
| zh | C综合征 | Opitz三角头畸形C综合征 |
| tr | C sendromu | OTCS · Opitz C trigonosefali · Trigonosefali C sendromu · Opitz trigonosefali sendromu · Opitz trigonosefali C sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 211750 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0008893 | E | validated | |
| MeSH | C537418 | E | validated | |
| UMLS | C0796095 | E | validated | |
| GARD | 5978 | E | validated | |
| MedDRA | 10083975 | 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 (3):
- 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 - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CD96 | Candidate gene tested in | Not yet assessed | HGNC:16892 | ENSG00000153283 | 606037 | 3q13.13-q13.2 | CD96 molecule | 17847009[PMID]_19449408[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.11 / 100 000 | Europe | Value and class | Validated | [EXPERT]_17162528[PMID] |
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
54 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0004422 | Biparietal narrowing | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0010458 | Female pseudohermaphroditism | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000218 | High palate | |
| HP:0100720 | Hypoplasia of the ear cartilage | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000319 | Smooth philtrum | |
| HP:0000243 | Trigonocephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0004378 | Abnormality of the anus | |
| HP:0000191 | Accessory oral frenulum | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0003083 | Dislocated radial head | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001252 | Hypotonia | |
| HP:0001373 | Joint dislocation | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002983 | Micromelia | |
| HP:0007601 | Midline facial capillary hemangioma | |
| HP:0000767 | Pectus excavatum | |
| HP:0001582 | Redundant skin | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0000233 | Thin vermilion border | |
| Occasional (29-5%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002019 | Constipation | |
| HP:0001522 | Death in infancy | |
| HP:0001161 | Hand polydactyly | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001539 | Omphalocele | |
| HP:0001561 | Polyhydramnios | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001770 | Toe syndactyly | |
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/1308
- This record as JSON: /data/d/1308.json