MCID: CLF042
MIFTS: 18

Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease

Categories: Cardiovascular diseases, Fetal diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Cleft Lip/palate with Characteristic Facies, Intestinal...

MalaCards integrated aliases for Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease:

Name: Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease 56
Cleft Lip/palate-Intestinal Malrotation-Cardiopathy Syndrome 58
Mcpherson Clemens Syndrome 71
Mcpherson-Clemens Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 601165
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C2931750
Orphanet 58 ORPHA2001
MedGen 41 C2931750
UMLS 71 C2931750

Summaries for Cleft Lip/palate with Characteristic Facies, Intestinal...

MalaCards based summary : Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease, also known as cleft lip/palate-intestinal malrotation-cardiopathy syndrome, is related to mcpherson clemens syndrome. Affiliated tissues include heart, tongue and pancreatic islet, and related phenotypes are hypertelorism and short neck

More information from OMIM: 601165

Related Diseases for Cleft Lip/palate with Characteristic Facies, Intestinal...

Diseases related to Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mcpherson clemens syndrome 12.7

Symptoms & Phenotypes for Cleft Lip/palate with Characteristic Facies, Intestinal...

Human phenotypes related to Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 flat face 58 31 hallmark (90%) Very frequent (99-80%) HP:0012368
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 flat occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0005469
6 bilateral cleft lip and palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002744
7 hypoplastic left heart 58 31 frequent (33%) Frequent (79-30%) HP:0004383
8 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
9 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
10 broad thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0011304
11 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
12 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
13 abnormal aortic morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001679
14 bifid tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010297
15 malformation of the heart and great vessels 58 Very frequent (99-80%)
16 cleft upper lip 31 HP:0000204
17 malar flattening 31 HP:0000272
18 abnormality of the tongue 31 HP:0000157
19 partial duplication of thumb phalanx 31 HP:0009944
20 large for gestational age 31 HP:0001520
21 visceromegaly 31 HP:0003271
22 abnormal hand morphology 31 HP:0005922
23 broad palm 31 HP:0001169
24 short palm 31 HP:0004279
25 abnormality of cardiovascular system morphology 31 HP:0030680
26 pancreatic islet-cell hyperplasia 31 HP:0004510

Symptoms via clinical synopsis from OMIM:

56
Eyes:
hypertelorism

Growth:
large for gestational age

Limbs:
bifid thumbs
short broad hands
minor hand anomalies

Mouth:
macrosomia
bilateral cleft lip/palate
tongue anomaly

Cardiac:
lethal complex congenital heart defect

Head:
flat occiput

G I:
visceromegaly
malrotation of the intestine

Facies:
flat facial profile

Lab:
normal chromosomes
hypertrophic pancreatic islets

Clinical features from OMIM:

601165

Drugs & Therapeutics for Cleft Lip/palate with Characteristic Facies, Intestinal...

Search Clinical Trials , NIH Clinical Center for Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease

Genetic Tests for Cleft Lip/palate with Characteristic Facies, Intestinal...

Anatomical Context for Cleft Lip/palate with Characteristic Facies, Intestinal...

MalaCards organs/tissues related to Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease:

40
Heart, Tongue, Pancreatic Islet

Publications for Cleft Lip/palate with Characteristic Facies, Intestinal...

Articles related to Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease:

# Title Authors PMID Year
1
Cleft lip and palate, hypertelorism, brachycephaly, flat facial profile, and congenital heart disease in three brothers. 56
9415467 1997
2
Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition? 56
8779326 1996

Variations for Cleft Lip/palate with Characteristic Facies, Intestinal...

Expression for Cleft Lip/palate with Characteristic Facies, Intestinal...

Search GEO for disease gene expression data for Cleft Lip/palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease.

Pathways for Cleft Lip/palate with Characteristic Facies, Intestinal...

GO Terms for Cleft Lip/palate with Characteristic Facies, Intestinal...

Sources for Cleft Lip/palate with Characteristic Facies, Intestinal...

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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