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 57
Cleft Palate-Omphalocele Syndrome, Lethal 57 53
Omphalocele Cleft Palate Syndrome Lethal 53 72
Lethal Omphalocele-Cleft Palate Syndrome 53 59
Czeizel Syndrome 53 59

Characteristics:

Orphanet epidemiological data:

59
lethal omphalocele-cleft palate syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
omphalocele-cleft palate syndrome, lethal:
Clinical modifier death in infancy
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 258320
MESH via Orphanet 45 C537747
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1850317
Orphanet 59 ORPHA2736
MedGen 42 C1850317
UMLS 72 C1850317

Summaries for Omphalocele-Cleft Palate Syndrome, Lethal

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2736DefinitionLethal 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:

59 32 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 omphalocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0001539
2 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
3 retrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000278
4 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
5 bifid uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000136
6 unilateral cleft lip 59 32 frequent (33%) Frequent (79-30%) HP:0100333
7 cleft soft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000185
8 cleft palate 59 32 Very frequent (99-80%) HP:0000175
9 bicornuate uterus 32 HP:0000813

Symptoms via clinical synopsis from OMIM:

57
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:

41
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? 38 8
6873946 1983
2
Syndromes and disorders associated with omphalocele (III): single gene disorders, neural tube defects, diaphragmatic defects and others. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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