ORPHA:1791
Frontofacionasal dysplasia
Synonyms: Gollop syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare genetic disease characterized by variable multiple congenital craniofacial anomalies, including brachycephaly, cranium bifidum occultum, hypertelorism, midface hypoplasia, nasal hypoplasia, or cleft lip/palate, among others, as well as abnormalities of the eyes and eyelids. Encephalocele and spina bifida have also been reported in association.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontofacionasal dysplasia | Gollop syndrome |
| fr | Dysplasie fronto-facio-nasale | Syndrome de Gollop |
| de | Dysplasie, fronto-fazio-nasale | Gollop-Syndrom |
| es | Displasia frontofacionasal | Síndrome de Gollop · Síndrome óculo aurículo fronto nasal |
| it | Displasia fronto-facio-nasale | Sindrome di Gollop · Sindrome oculo-auriculo-fronto-nasale |
| nl | Fronto-facio-nasale dysplasie | Gollopsyndroom |
| pt | Disostose fronto-facio-nasal | Síndrome Gollop · Síndrome óculo-auriculo-fronto-nasal |
| pl | Dysplazja czołowo-twarzowo-nosowa | Zespół Gollopa |
| cs | Frontofacionazální dysplázie | Gollopův syndrom |
| uk | Фронтофаціоназальна дисплазія | Синдром Голлопа |
| zh | 额面鼻发育不良 | Gollop综合征 |
| tr | Frontofasiyonasal displazi | Gollop sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 229400 | E | validated | |
| ICD-10 | Q75.8 | NTBT | attributed | validated |
| ICD-11 | LD25.3 | NTBT | attributed | validated |
| MONDO | 0009247 | E | validated | |
| MeSH | C538063 | E | validated | |
| UMLS | C2931720 | E | validated | |
| GARD | 2390 | 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 (8):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:250Frontonasal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:141234Median facial cleft
rare developmental anomalies during embryogenesis; rare surgical maxillo-facial diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98565Syndromic ankyloblepharon filiforme adnatum
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
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 | 14 cases | Worldwide | Case(s) | Validated | 26495166[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26495166[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
31 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000581 | Blepharophimosis | |
| HP:0000337 | Broad forehead | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0002006 | Facial cleft | |
| HP:0000316 | Hypertelorism | |
| HP:0011800 | Midface retrusion | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000508 | Ptosis | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000506 | Telecanthus | |
| HP:0000636 | Upper eyelid coloboma | |
| Frequent (79-30%) | ||
| HP:0007708 | Absent inner eyelashes | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0000456 | Bifid nasal tip | |
| HP:0000248 | Brachycephaly | |
| HP:0001088 | Brushfield spots | |
| HP:0000175 | Cleft palate | |
| HP:0002084 | Encephalocele | |
| HP:0007036 | Hypoplasia of olfactory tract | |
| HP:0000612 | Iris coloboma | |
| HP:0001140 | Limbal dermoid | |
| HP:0000384 | Preauricular skin tag | |
| Occasional (29-5%) | ||
| HP:0000518 | Cataract | |
| HP:0000453 | Choanal atresia | |
| HP:0004132 | Dimple on nasal tip | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0001482 | Subcutaneous nodule | |
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/1791
- This record as JSON: /data/d/1791.json