MCID: CLF042
MIFTS: 20

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 57
Cleft Lip/palate-Intestinal Malrotation-Cardiopathy Syndrome 59
Mcpherson Clemens Syndrome 73
Mcpherson-Clemens Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: infantile,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 601165
Orphanet 59 ORPHA2001
UMLS via Orphanet 74 C2931750
ICD10 via Orphanet 34 Q87.8
MedGen 42 C2931750
UMLS 73 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
3 broad thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0011304
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 patent ductus arteriosus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001643
6 flat face 59 32 hallmark (90%) Very frequent (99-80%) HP:0012368
7 hypoplastic left heart 59 32 frequent (33%) Frequent (79-30%) HP:0004383
8 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
9 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
10 intestinal malrotation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002566
11 flat occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0005469
12 abnormal aortic morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001679
13 bilateral cleft lip and palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002744
14 bifid tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0010297
15 malar flattening 32 HP:0000272
16 malformation of the heart and great vessels 59 Very frequent (99-80%)
17 short palm 32 HP:0004279
18 partial duplication of thumb phalanx 32 HP:0009944
19 cleft upper lip 32 HP:0000204
20 large for gestational age 32 HP:0001520
21 visceromegaly 32 HP:0003271
22 abnormality of cardiovascular system morphology 32 HP:0030680
23 abnormal hand morphology 32 HP:0005922
24 broad palm 32 HP:0001169
25 abnormality of the tongue 32 HP:0000157
26 pancreatic islet-cell hyperplasia 32 HP:0004510

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:

41
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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