Lethal omphalocele-cleft palate syndrome
Synonyms: Czeizel syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the association of omphalocele and cleft palate. Other reported features include cleft lip, bifid uvula, bilateral talipes equinovarus, bicornuate uterus, and hydrocephalus internus. The condition is lethal in infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lethal omphalocele-cleft palate syndrome | Czeizel syndrome |
| fr | Syndrome létal d'omphalocèle-fente palatine | Syndrome de Czeizel |
| de | Omphalozele-Gaumenspalte-Syndrom, letales | Czeizel-Syndrom |
| es | Síndrome letal de onfalocele-paladar hendido | Síndrome de Czeizel |
| it | Sindrome letale onfalocele-labiopalatoschisi | Sindrome di Czeizel |
| nl | Letale omfalocele - gespleten verhemelte-syndroom | Syndroom van Czeizel |
| pt | Síndrome onfalocelo-fenda palatina letal | Síndrome Czeizel |
| pl | Śmiertelny zespół przepukliny pępowinowej i rozszczepu podniebienia | = en |
| cs | Syndrom zahrnující letální omfalokélu a rozštěp patra | Czeizelův syndrom |
| uk | Летальний синдром омфалоцеле-розщілини піднебіння | Синдром Цейзеля |
| zh | 致死性脐膨出-腭裂综合征 | Czeizel 综合征 |
| tr | Letal omfalosel-yarık damak sendromu | Czeizel sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 258320 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009780 | E | validated | |
| MeSH | C537747 | E | validated | |
| UMLS | C1850317 | E | validated | |
| GARD | 4079 | 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 (4):
- 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:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 6873946[PMID]_26867152[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6873946[PMID]_26867152[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.
HPO phenotypes
8 annotations · validated 2019-03-08| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0001539 | Omphalocele | |
| Frequent (79-30%) | ||
| HP:0000136 | Bifid uterus | |
| HP:0000193 | Bifid uvula | |
| HP:0000185 | Cleft soft palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000278 | Retrognathia | |
| HP:0100333 | Unilateral cleft lip | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17638618[PMID]_26867152[PMID]_6873946[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2736
- This record as JSON: /data/d/2736.json