ORPHA:171839
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Synonyms: Berant syndrome · Capra-DeMarco syndrome · Familial scaphocephaly-radioulnar synostosis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome | Berant syndrome · Capra-DeMarco syndrome · Familial scaphocephaly-radioulnar synostosis syndrome |
| fr | Syndrome de craniosynostose-hydrocéphalie-malformation d'Arnold-Chiari type I-synostose radio-ulnaire | Syndrome de scaphocéphallie familiale-synostose radio-ulnaire · Syndrome de Berant · Syndrome de Capra-DeMarco |
| de | Kraniosynostose-Hydrozephalus-Chiari-Fehlbildung I-radioulnare Synostose-Syndrom | Berant-Syndrom · Capra-DeMarco-Syndrom · Syndrom des familiären Skaphozephalus mit Radioulnarsynostose |
| es | Síndrome de craneosinostosis-hidrocefalia-malformación de Chiari 1-sinostosis radiocubital | Escafocefalia familiar-sinostosis radiocubital · Síndrome de Berant · Síndrome de Capra-DeMarco |
| it | Craniosinostosi - idrocefalo - malformazione di Chiari I - sinostosi radioulnare | Scafocefalia familiare - sinostosi radioulnare · Sindrome di Berant · Sindrome di Capra-DeMarco |
| nl | Craniosynostose - hydrocefalus - malformatie van Arnold-Chiari type I - radio-ulnaire synostose-syndroom | Familiale scafocefalie - radio-ulnaire synostose-syndroom · Syndroom van Berant · Syndroom van Capra-DeMarco |
| pt | Síndrome de craniossinostose-hidrocefalia-malformação de Arnold-Chiari tipo I-sinostose radio-cubital | Síndrome Capra-DeMarco |
| pl | Kraniosynostoza- wodogłowie - malformacja Chiarego I - synostoza promieniowo-łokciowa | Rodzinna skafocefalia - synostoza promieniowo-łokciowa · Zespół Beranta · Zespół Capra i DeMarco |
| cs | Syndrom zahrnující kraniosynostózu, hydrocefalus, Arnoldovu-Chiariho malformaci typu I, a radioulnární synostózu | Syndrom zahrnující familiární skafocefalii a radioulnární synostózu · Berantův syndrom · Caprův-DeMarcův syndrom · Syndrom zahrnující kraniosynostózu, hydrocefalus, Arnold-Chiariho malformaci typ I, a radioulnární synostózu · Capra-DeMarcův syndrom |
| uk | Синдром краніосиностозу-гідроцефалії-вади Арнольда-Кіарі типу I - радіоульнарного синостозу | Синдром Беранта · Синдром Капра-ДеМарко · Сімейний синдром скафоцефалії-радіоульнарного синостозу |
| zh | 颅缝早闭-脑积水-Arnold-Chiari I型畸形-尺桡骨骨性愈合综合征 | Capra-DeMarco综合征 |
| tr | Kraniyosinostoz-hidrosefali-Arnold-Chiari malformasyon tip I-radioulnar sinostoz sendromu | Ailesel sikafosefali-radioulnar sinostozis sendromu · Berant sendromu · Capra-DeMarco sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0015751 | E | validated | |
| UMLS | C3267187 | 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 (2):
- ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
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
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 | 2 cases | Worldwide | Case(s) | Validated | 19022412[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19022412[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
41 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0002308 | Chiari malformation | |
| HP:0001363 | Craniosynostosis | |
| HP:0000028 | Cryptorchidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000348 | High forehead | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000054 | Micropenis | |
| HP:0008551 | Microtia | |
| HP:0000768 | Pectus carinatum | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0000104 | Renal agenesis | |
| HP:0000089 | Renal hypoplasia | |
| HP:0001250 | Seizure | |
| HP:0002000 | Short columella | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0000233 | Thin vermilion border | |
| HP:0000262 | Turricephaly | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0007375 | Abnormality of the septum pellucidum | |
| HP:0000463 | Anteverted nares | |
| HP:0002059 | Cerebral atrophy | |
| HP:0001276 | Hypertonia | |
| HP:0000047 | Hypospadias | |
| HP:0000239 | Large fontanelles | |
| HP:0001601 | Laryngomalacia | |
| HP:0000347 | Micrognathia | |
| HP:0001513 | Obesity | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0001770 | Toe syndactyly | |
| HP:0001537 | Umbilical hernia | |
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/171839
- This record as JSON: /data/d/171839.json