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 57
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 eye, brain and heart, and related phenotypes are frontal bossing 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 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
4 bowing of the long bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0006487
5 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 downturned corners of mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0002714
10 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
11 platyspondyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000926
12 abnormality of epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0005930
13 short philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000322
14 platybasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002691
15 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
16 cloverleaf skull 58 31 hallmark (90%) Very frequent (99-80%) HP:0002676
17 decreased skull ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0004331
18 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
19 abnormal clavicle morphology 31 hallmark (90%) HP:0000889
20 agenesis of corpus callosum 58 31 frequent (33%) Frequent (79-30%) HP:0001274
21 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
22 microphthalmia 58 31 frequent (33%) Frequent (79-30%) HP:0000568
23 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
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
28 abnormality of the clavicle 58 Very frequent (99-80%)

Clinical features from OMIM®:

607161 (Updated 05-Apr-2021)

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
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. 57
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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