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Lethal omphalocele-cleft palate syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Czeizel syndrome
SNOMED CT: Lethal omphalocele with cleft palate syndrome (719408007); Czeizel syndrome (719408007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0009780
OMIM®: 258320
Orphanet: ORPHA2736


Syndrome with the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. This syndrome is likely to be inherited as an autosomal recessive condition. [from SNOMEDCT_US]

Clinical features

From HPO
Bicornuate uterus
MedGen UID:
Concept ID:
Congenital Abnormality
The presence of a bicornuate uterus.
MedGen UID:
Concept ID:
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Congenital omphalocele
MedGen UID:
Concept ID:
Congenital Abnormality
An omphalocele is an abdominal wall defect limited to an open umbilical ring, and is characterized by the herniation of membrane-covered internal organs into the open base of the umbilical cord. Omphalocele is distinguished from gastroschisis (230750), in which the abdominal wall defect is located laterally to a normally closed umbilical ring with herniation of organs that are uncovered by membranes (summary by Bugge, 2010). On the basis of clinical manifestations, epidemiologic characteristics, and the presence of additional malformations, Yang et al. (1992) concluded that omphalocele and gastroschisis are casually and pathogenetically distinct abdominal wall defects. Omphalocele can be a feature of genetic disorders, such as Beckwith-Wiedemann syndrome (130650) and the Shprintzen-Goldberg syndrome (182210).
Cleft palate
MedGen UID:
Concept ID:
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Bifid uvula
MedGen UID:
Concept ID:
Congenital Abnormality
Uvula separated into two parts most easily seen at the tip.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLethal omphalocele-cleft palate syndrome
Follow this link to review classifications for Lethal omphalocele-cleft palate syndrome in Orphanet.

Recent clinical studies


Chen CP
Taiwan J Obstet Gynecol 2007 Jun;46(2):111-20. doi: 10.1016/S1028-4559(07)60004-7. PMID: 17638618

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