ORPHA:93267
Cloverleaf skull-multiple congenital anomalies syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
This newly described syndrome is characterized by cloverleaf skull, limb anomalies, facial dysmorphism and multiple congenital anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cloverleaf skull-multiple congenital anomalies syndrome | |
| fr | Syndrome de crâne en trèfle-anomalies congénitales multiples | |
| de | Kleeblattschädel - multiple kongenitale Anomalien | |
| es | Síndrome de cráneo en trébol-anomalías congénitas múltiples | |
| it | Cranio a trifoglio - anomalie congenite multiple | |
| nl | Klaverbladschedel - multipele congenitale anomalieën-syndroom | |
| pt | Síndrome de crânio em trevo-anomalias congénitas múltiplas | |
| pl | gg | |
| cs | Syndrom zahrnující lebku tvaru jetelového listu a mnohočetné vrozené anomálie | |
| uk | Синдром множинних вроджених аномалій черепа типу листя конюшини | |
| zh | 三叶草状颅-多发性先天性异常综合征 | |
| tr | Yonca yaprağı kafatası-çoklu doğumsal anomaliler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607161 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0011788 | E | validated | |
| MeSH | C564611 | E | validated | |
| UMLS | C1846671 | 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:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 12081722[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12081722[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0006487 | Bowing of the long bones | |
| HP:0002676 | Cloverleaf skull | |
| HP:0004331 | Decreased skull ossification | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000774 | Narrow chest | |
| HP:0002691 | Platybasia | |
| HP:0000926 | Platyspondyly | |
| HP:0008905 | Rhizomelia | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000518 | Cataract | |
| HP:0000239 | Large fontanelles | |
| HP:0000568 | Microphthalmia | |
| HP:0001539 | Omphalocele | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 12081722[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93267
- This record as JSON: /data/d/93267.json