ORPHA:7
3C syndrome
Synonyms: Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive, X-linked recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3C syndrome | Craniocerebellocardiac dysplasia · Ritscher-Schinzel syndrome |
| fr | Syndrome 3C | Dysplasie cranio-cérébello-cardiaque · Syndrome de Ritscher-Schinzel |
| de | 3C-Syndrom | Dysplasie, kardiale kraniozerebelläre · Ritscher-Schinzel-Syndrom |
| es | Síndrome 3C | Displasia craneo-cerebelo-cardíaca · Síndrome de Ritscher Schinzel |
| it | Sindrome 3C | Displasia cranio-cerebello-cardiaca · Sindrome di Ritscher-Schinzel |
| nl | 3C-syndroom | Cranio-cerebello-cardiale dysplasie · Syndroom van Ritscher-Schinzel |
| pt | Síndrome 3C | Displasia cranio-cerebelo-cardíaca · Síndrome Ritscher-Schinzel |
| pl | Zespół 3C | Dysplazja czaszkowo - mózgowo - sercowa · Zespół Ritschera i Schinzela |
| cs | 3C syndrom | Kraniocerebelokardiální dysplázie · Ritscherův-Schinzelův syndrom · Ritscher-Schinzelův syndrom |
| uk | Синдром 3С | Краніоцеребеллокардіальна дисплазія · Синдром Рітшера-Шинцеля |
| zh | 3C综合征 | 颅脑小脑心血管发育不全 |
| tr | 3C sendromu | Ritscher-Schinzel sendromu · Kraniyoserebellokardiyak displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 220210 | BTNT | validated | |
| OMIM | 300963 | BTNT | validated | |
| OMIM | 619135 | BTNT | validated | |
| OMIM | 619435 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0019078 | E | validated | |
| MeSH | C535313 | E | validated | |
| UMLS | C0796137 | E | validated | |
| GARD | 5666 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269570Genetic syndrome with a Dandy-Walker malformation as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269546Syndrome with a Dandy-Walker malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CCDC22 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28909 | ENSG00000101997 | 300859 | Xp11.23 | CCC complex scaffolding subunit CCDC22 | 24916641[PMID] |
| DPYSL5 | Disease-causing germline mutation(s) in | Assessed | HGNC:20637 | ENSG00000157851 | 608383 | 2p23.3 | dihydropyrimidinase like 5 | 33894126[PMID] |
| VPS35L | Disease-causing germline mutation(s) in | Assessed | HGNC:24641 | ENSG00000103544 | 618981 | 16p12.3 | VPS35 endosomal protein sorting factor like | 31712251[PMID] |
| WASHC5 | Disease-causing germline mutation(s) in | Assessed | HGNC:28984 | ENSG00000164961 | 610657 | 8q24.13 | WASH complex subunit 5 | 24065355[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | 18957854[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18957854[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
64 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0002007 | Frontal bossing | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0001631 | Atrial septal defect | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0000175 | Cleft palate | |
| HP:0001522 | Death in infancy | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002705 | High, narrow palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0002808 | Kyphosis | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000269 | Prominent occiput | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0003272 | Abnormality of the hip bone | |
| HP:0000835 | Adrenal hypoplasia | |
| HP:0002023 | Anal atresia | |
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0001156 | Brachydactyly | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0004397 | Ectopic anus | |
| HP:0000329 | Facial hemangioma | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0006101 | Finger syndactyly | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000501 | Glaucoma | |
| HP:0001161 | Hand polydactyly | |
| HP:0002937 | Hemivertebrae | |
| HP:0000126 | Hydronephrosis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000612 | Iris coloboma | |
| HP:0000347 | Micrognathia | |
| HP:0000921 | Missing ribs | |
| HP:0000648 | Optic atrophy | |
| HP:0000202 | Orofacial cleft | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0000384 | Preauricular skin tag | |
| HP:0000470 | Short neck | |
| HP:0001195 | Single umbilical artery | |
Run the differential on the 9 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/7
- This record as JSON: /data/d/7.json