Frontonasal dysplasia
Synonyms: Median cleft face syndrome
- Type
- Clinical group
- Group
- Group of disorders
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontonasal dysplasia | Median cleft face syndrome |
| fr | Dysplasie frontonasale | Syndrome de la fente faciale médiane |
| de | Dysplasie, fronto-nasale | Syndrom der medianen Gesichtsspalte |
| es | Displasia frontonasal | Síndrome de la fisura media |
| it | Displasia frontonasale | Sindrome della schisi mediana |
| nl | Frontonasale dysplasie | Mediane splijtingsyndroom |
| pt | Displasia fronto-nasal | |
| pl | Dysplazja czołowo-nosowa | Zespół rozszczepu pośrodkowego · Zespół rozszczepu pośrodkowego |
| cs | Frontonazální dysplázie | Syndrom mediánního rozštěpu |
| uk | Фронтоназальна дисплазія | Синдром серединної розщілини обличчя |
| zh | 额鼻发育不良 | 脸正中裂综合征 |
| tr | Frontonazal displazi | Medyan yarık yüz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0016643 | E | validated | |
| MONDO | 16643 | E | validated | |
| MeSH | C538065 | E | validated | |
| UMLS | C1876203 | E | validated | |
| GARD | 2392 | E | validated | |
| MedDRA | 10089384 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:93453Dysostosis with predominant craniofacial involvement
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (13):
- ORPHA:1827Acromelic frontonasal dysplasia
- ORPHA:1520Craniofrontonasal dysplasia
- ORPHA:1521Craniofrontonasal dysplasia-Poland anomaly syndrome
- ORPHA:157832Craniorhiny
- ORPHA:1791Frontofacionasal dysplasia
- ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:521308Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
- ORPHA:306542Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
- ORPHA:391474Frontorhiny
- ORPHA:398156Oculoauriculofrontonasal syndrome
- ORPHA:1993Pai syndrome
- ORPHA:488437SIX2-related frontonasal dysplasia
- ORPHA:1519SPECC1L-related hypertelorism syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:391479OBSOLETE: Syndromic frontonasal dysplasia referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.7 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/250
- This record as JSON: /data/d/250.json