MCID: OMP008
MIFTS: 18

Omphalocele-Cleft Palate Syndrome, Lethal

Categories: Fetal diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Omphalocele-Cleft Palate Syndrome, Lethal

MalaCards integrated aliases for Omphalocele-Cleft Palate Syndrome, Lethal:

Name: Omphalocele-Cleft Palate Syndrome, Lethal 56
Cleft Palate-Omphalocele Syndrome, Lethal 56 52
Omphalocele Cleft Palate Syndrome Lethal 52 71
Lethal Omphalocele-Cleft Palate Syndrome 52 58
Czeizel Syndrome 52 58

Characteristics:

Orphanet epidemiological data:

58
lethal omphalocele-cleft palate syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
omphalocele-cleft palate syndrome, lethal:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 258320
MESH via Orphanet 44 C537747
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1850317
Orphanet 58 ORPHA2736
MedGen 41 C1850317
UMLS 71 C1850317

Summaries for Omphalocele-Cleft Palate Syndrome, Lethal

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2736 Definition Lethal omphalocele-cleft palate syndrome is characterized by the association of omphalocele and cleft palate. It has been described in three daughters of normal unrelated parents. They were all diagnosed at birth. One had omphalocele, posterior cleft palate, and uterus bicornuatus; she died at 2 months. The second had omphalocele, cleft uvula, and hydrocephalus and died at 4 months; the third had omphalocele and cleft palate and died at 1 year. This syndrome is likely to be inherited as an autosomal recessive condition. Visit the Orphanet disease page for more resources.

MalaCards based summary : Omphalocele-Cleft Palate Syndrome, Lethal, also known as cleft palate-omphalocele syndrome, lethal, is related to cleft palate, isolated and omphalocele. Affiliated tissues include uterus, and related phenotypes are omphalocele and hydrocephalus

More information from OMIM: 258320

Related Diseases for Omphalocele-Cleft Palate Syndrome, Lethal

Diseases related to Omphalocele-Cleft Palate Syndrome, Lethal via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.3
2 omphalocele 10.3

Symptoms & Phenotypes for Omphalocele-Cleft Palate Syndrome, Lethal

Human phenotypes related to Omphalocele-Cleft Palate Syndrome, Lethal:

58 31 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0001539
2 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
3 retrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000278
4 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
5 bifid uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000136
6 unilateral cleft lip 58 31 frequent (33%) Frequent (79-30%) HP:0100333
7 cleft soft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000185
8 cleft palate 58 31 Very frequent (99-80%) HP:0000175
9 bicornuate uterus 31 HP:0000813

Symptoms via clinical synopsis from OMIM:

56
H E E N T:
hydrocephalus
cleft uvula
posterior cleft palate

G U:
bicornuate uterus

Abdomen:
omphalocele

Misc:
lethal in infancy

Clinical features from OMIM:

258320

Drugs & Therapeutics for Omphalocele-Cleft Palate Syndrome, Lethal

Search Clinical Trials , NIH Clinical Center for Omphalocele-Cleft Palate Syndrome, Lethal

Genetic Tests for Omphalocele-Cleft Palate Syndrome, Lethal

Anatomical Context for Omphalocele-Cleft Palate Syndrome, Lethal

MalaCards organs/tissues related to Omphalocele-Cleft Palate Syndrome, Lethal:

40
Uterus

Publications for Omphalocele-Cleft Palate Syndrome, Lethal

Articles related to Omphalocele-Cleft Palate Syndrome, Lethal:

# Title Authors PMID Year
1
New lethal omphalocele-cleft palate syndrome? 61 56
6873946 1983
2
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 61
17638618 2007

Variations for Omphalocele-Cleft Palate Syndrome, Lethal

Expression for Omphalocele-Cleft Palate Syndrome, Lethal

Search GEO for disease gene expression data for Omphalocele-Cleft Palate Syndrome, Lethal.

Pathways for Omphalocele-Cleft Palate Syndrome, Lethal

GO Terms for Omphalocele-Cleft Palate Syndrome, Lethal

Sources for Omphalocele-Cleft Palate Syndrome, Lethal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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