MCID: CLF042
MIFTS: 19

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 58
Cleft Lip/palate-Intestinal Malrotation-Cardiopathy Syndrome 60
Mcpherson Clemens Syndrome 74
Mcpherson-Clemens Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 601165
ICD10 via Orphanet 35 Q87.8
UMLS via Orphanet 75 C2931750
Orphanet 60 ORPHA2001
MedGen 43 C2931750
UMLS 74 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

Description 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 12.5

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:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 60 33 hallmark (90%) Very frequent (99-80%) HP:0000470
3 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
4 flat face 60 33 hallmark (90%) Very frequent (99-80%) HP:0012368
5 flat occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0005469
6 bilateral cleft lip and palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002744
7 hypoplastic left heart 60 33 frequent (33%) Frequent (79-30%) HP:0004383
8 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
9 upslanted palpebral fissure 60 33 frequent (33%) Frequent (79-30%) HP:0000582
10 broad thumb 60 33 occasional (7.5%) Occasional (29-5%) HP:0011304
11 patent ductus arteriosus 60 33 occasional (7.5%) Occasional (29-5%) HP:0001643
12 intestinal malrotation 60 33 occasional (7.5%) Occasional (29-5%) HP:0002566
13 abnormal aortic morphology 60 33 occasional (7.5%) Occasional (29-5%) HP:0001679
14 bifid tongue 60 33 occasional (7.5%) Occasional (29-5%) HP:0010297
15 malar flattening 33 HP:0000272
16 malformation of the heart and great vessels 60 Very frequent (99-80%)
17 short palm 33 HP:0004279
18 partial duplication of thumb phalanx 33 HP:0009944
19 cleft upper lip 33 HP:0000204
20 large for gestational age 33 HP:0001520
21 visceromegaly 33 HP:0003271
22 abnormality of cardiovascular system morphology 33 HP:0030680
23 abnormal hand morphology 33 HP:0005922
24 broad palm 33 HP:0001169
25 abnormality of the tongue 33 HP:0000157
26 pancreatic islet-cell hyperplasia 33 HP:0004510

Symptoms via clinical synopsis from OMIM:

58
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:

42
Heart, Tongue, Pancreatic Islet

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

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
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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