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 58
Cleft Palate-Omphalocele Syndrome, Lethal 58 54
Omphalocele Cleft Palate Syndrome Lethal 54 74
Lethal Omphalocele-Cleft Palate Syndrome 54 60
Czeizel Syndrome 54 60

Characteristics:

Orphanet epidemiological data:

60
lethal omphalocele-cleft palate syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
omphalocele-cleft palate syndrome, lethal:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 258320
MESH via Orphanet 46 C537747
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C1850317
Orphanet 60 ORPHA2736
MedGen 43 C1850317
UMLS 74 C1850317

Summaries for Omphalocele-Cleft Palate Syndrome, Lethal

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2736Disease definitionLethal omphalocele-cleft palatesyndrome 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

Description 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:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 60 33 hallmark (90%) Very frequent (99-80%) HP:0001539
2 hydrocephalus 60 33 frequent (33%) Frequent (79-30%) HP:0000238
3 retrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000278
4 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
5 bifid uterus 60 33 frequent (33%) Frequent (79-30%) HP:0000136
6 unilateral cleft lip 60 33 frequent (33%) Frequent (79-30%) HP:0100333
7 cleft soft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000185
8 cleft palate 60 33 Very frequent (99-80%) HP:0000175
9 bicornuate uterus 33 HP:0000813

Symptoms via clinical synopsis from OMIM:

58
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:

42
Uterus

Publications for Omphalocele-Cleft Palate Syndrome, Lethal

Articles related to Omphalocele-Cleft Palate Syndrome, Lethal:

# Title Authors Year
1
New lethal omphalocele-cleft palate syndrome? ( 6873946 )
1983

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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