Familial omphalocele syndrome with facial dysmorphism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial omphalocele syndrome with facial dysmorphism is a rare genetic developmental defect during embryogenesis characterized by omphalocele associated with facial dysmorphism including flat face, short, upturned nose, long and wide philtrum and flattened maxillary arch and abnormalities of hands.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial omphalocele syndrome with facial dysmorphism | |
| fr | Syndrome omphalocèle familial avec dysmorphie faciale | |
| de | Syndrom der Omphalozele mit Gesichtsdysmorphien, familiäre Form | |
| es | Síndrome de onfalocele familiar con dismorfia facial | |
| it | Sindrome da onfalocele familiare con dismorfismi facciali | |
| nl | Familiale omfalocele-syndroom met faciale dysmorfie | |
| pt | Síndrome de onfalocelo familiar com dismorfia facial | |
| pl | Rodzinny zespół przepukliny pępowinowej z dysmorfią twarzy | |
| cs | Syndrom familiární omfalokély s faciálním dysmorfismem | |
| uk | Сімейний синдром омфалоцеле з дисморфізмом обличчя | |
| zh | 伴有面部畸形的家族性脐膨出综合征 | |
| tr | Yüz dismorfizm ile seyreden ailesel omfalosel sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q79.2 | NTBT | attributed | validated |
| MONDO | 0017235 | E | validated | |
| UMLS | C4749579 | 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 (2):
- ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 21333766[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280403
- This record as JSON: /data/d/280403.json