MCID: MLT147
MIFTS: 16

Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

MalaCards integrated aliases for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull:

Name: Multiple Congenital Anomalies Syndrome with Cloverleaf Skull 56
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
cloverleaf skull-multiple congenital anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: infantile,stillbirth;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

MalaCards based summary : Multiple Congenital Anomalies Syndrome with Cloverleaf Skull, is also known as cloverleaf skull-multiple congenital anomalies syndrome. Affiliated tissues include bone, eye and brain, and related phenotypes are hypertelorism and short neck

More information from OMIM: 607161

Related Diseases for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Symptoms & Phenotypes for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Human phenotypes related to Multiple Congenital Anomalies Syndrome with Cloverleaf Skull:

58 31 (show all 27)
# 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 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 cloverleaf skull 58 31 hallmark (90%) Very frequent (99-80%) HP:0002676
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
10 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
11 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
12 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
13 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
14 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
15 platybasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002691
16 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
17 abnormality of the clavicle 58 31 hallmark (90%) Very frequent (99-80%) HP:0000889
18 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
19 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
20 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
21 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
22 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
23 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
24 large fontanelles 58 31 frequent (33%) Frequent (79-30%) HP:0000239
25 proximal placement of thumb 58 31 frequent (33%) Frequent (79-30%) HP:0009623
26 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
27 omphalocele 58 31 frequent (33%) Frequent (79-30%) HP:0001539

Clinical features from OMIM:

607161

Drugs & Therapeutics for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Search Clinical Trials , NIH Clinical Center for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Genetic Tests for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Anatomical Context for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

MalaCards organs/tissues related to Multiple Congenital Anomalies Syndrome with Cloverleaf Skull:

40
Bone, Eye, Brain, Heart

Publications for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Articles related to Multiple Congenital Anomalies Syndrome with Cloverleaf Skull:

# Title Authors PMID Year
1
Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome. 56
12081722 2002

Variations for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Expression for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Search GEO for disease gene expression data for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull.

Pathways for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

GO Terms for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

Sources for Multiple Congenital Anomalies Syndrome with Cloverleaf Skull

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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