Lethal omphalocele-cleft palate syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CLEFT PALATE-OMPHALOCELE SYNDROME, LETHAL
Czeizel syndrome
Number of Symptoms 12
OrphanetNr: 2736
OMIM Id: 258320
ICD-10: Q87.8
UMLs: C1850317
MeSH: C537747
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Orofacial clefting syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare maxillo-facial surgical disease
 -Rare otorhinolaryngologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndromic diaphragmatic or abdominal wall malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000130) Abnormality of the uterus Frequent [Orphanet] 86 / 7739
2
 (HPO:0000813) Bicornuate uterus 22 / 7739
3
 (HPO:0000175) Cleft palate 349 / 7739
4
 (HPO:0000193) Bifid uvula 66 / 7739
5
 (HPO:0000174) Abnormality of the palate Frequent [Orphanet] 298 / 7739
6
 (HPO:0000202) Oral cleft Very frequent [Orphanet] 120 / 7739
7
 (HPO:0001539) Omphalocele Very frequent [Orphanet] 102 / 7739
8
 (HPO:0001522) Death in infancy 275 / 7739
9
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
10
 (OMIM) Posterior cleft palate 2 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] 278 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: