ORPHA:1520
Craniofrontonasal dysplasia
Synonyms: CFND · CFNS · Craniofrontonasal syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare X-linked malformation syndrome characterized by craniofacial abnormalities such as uni- or bicoronal synostosis, hypertelorism and a bifid nose, grooved or split nails, frizzy hair, abnormalities of the shoulder girdle, hands and feet.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Craniofrontonasal dysplasia | CFND · CFNS · Craniofrontonasal syndrome |
| fr | Dysplasie cranio-fronto-nasale | CFND · CFNS · DCFN · SCFN · Syndrome cranio-fronto-nasal |
| de | Dysplasie, kranio-fronto-nasale | |
| es | Displasia craneofrontonasal | CFND · CFNS · Síndrome craneofrontonasal |
| it | Displasia cranio-fronto-nasale | CFND · CFNS · Sindrome cranio-fronto-nasale |
| nl | Craniofrontonasale dysplasie | CFND · CFNS · Craniofrontonasaal syndroom |
| pt | Displasia craniofrontonasal | |
| pl | Dysplazja czaszkowo-czołowo-nosowa | CFND · CFNS · Zespół czaszkowo-czołowo-nosowy |
| cs | Kraniofrontonazální dysplázie | CFND · CFNS · Kraniofrontonazální syndrom |
| uk | Краніофронтоназальна дисплазія | CFND · CFNS · Краніофронтоназальний синдром |
| zh | 颅额鼻发育不良 | 颅额鼻综合征 |
| tr | Kraniyofrontonasal displazi | CFND · CFNS · Kraniyofrontonazal sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304110 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | index | validated |
| MONDO | 0010570 | E | validated | |
| MeSH | C536456 | E | validated | |
| UMLS | C0220767 | E | validated | |
| GARD | 1578 | 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 (5):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EFNB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:3226 | ENSG00000090776 | 300035 | Xq13.1 | ephrin B1 | 15124102[PMID]_15166289[PMID]_15959873[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
42 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0001363 | Craniosynostosis | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0004122 | Midline defect of the nose | |
| HP:0008402 | Ridged fingernail | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0010719 | Abnormality of hair texture | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001156 | Brachydactyly | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006585 | Congenital pseudoarthrosis of the clavicle | |
| HP:0200021 | Down-sloping shoulders | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000324 | Facial asymmetry | |
| HP:0006101 | Finger syndactyly | |
| HP:0001161 | Hand polydactyly | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001382 | Joint hypermobility | |
| HP:0002162 | Low posterior hairline | |
| HP:0000252 | Microcephaly | |
| HP:0000202 | Orofacial cleft | |
| HP:0001357 | Plagiocephaly | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000912 | Sprengel anomaly | |
| HP:0000474 | Thickened nuchal skin fold | |
| HP:0000349 | Widow's peak | |
| HP:0002224 | Woolly hair | |
| Occasional (29-5%) | ||
| HP:0006709 | Aplasia/Hypoplasia of the nipples | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000047 | Hypospadias | |
| HP:0000767 | Pectus excavatum | |
| HP:0000049 | Shawl scrotum | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1520
- This record as JSON: /data/d/1520.json