MCID: KLB002
MIFTS: 14

Kleeblattschaedel Syndrome malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Kleeblattschaedel Syndrome

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Sources:
45NIH Rare Diseases, 65UMLS, 51Orphanet, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Kleeblattschaedel Syndrome:

Name: Kleeblattschaedel Syndrome 45 65
Isolated Cloverleaf Skull Syndrome 45 51
 
Kleeblattschaedel Deformity Syndrome 45
Cloverleaf Skull Syndrome 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
isolated cloverleaf skull syndrome:
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood


External Ids:

Orphanet51 2343
ICD10 via Orphanet28 Q75.0

Summaries for Kleeblattschaedel Syndrome

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MalaCards based summary: Kleeblattschaedel Syndrome, is also known as isolated cloverleaf skull syndrome, and has symptoms including malar flattening, high forehead and low-set, posteriorly rotated ears. An important gene associated with Kleeblattschaedel Syndrome is ERF (Ets2 Repressor Factor). Affiliated tissues include bone.

Related Diseases for Kleeblattschaedel Syndrome

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Symptoms for Kleeblattschaedel Syndrome

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Symptoms:

 51 (show all 14)
  • high forehead
  • proptosis/exophthalmos
  • mid-facial hypoplasia/short/small midface
  • depressed premaxillary region/midface
  • beaked nose
  • low set ears/posteriorly rotated ears
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • autosomal dominant inheritance
  • stillbirth/neonatal death
  • craniostenosis/craniosynostosis/sutural synostosis
  • abnormal vertebral size/shape
  • syndactyly of fingers/interdigital palm
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • restricted joint mobility/joint stiffness/ankylosis

HPO human phenotypes related to Kleeblattschaedel Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 high forehead hallmark (90%) HP:0000348
3 low-set, posteriorly rotated ears hallmark (90%) HP:0000368
4 convex nasal ridge hallmark (90%) HP:0000444
5 proptosis hallmark (90%) HP:0000520
6 cognitive impairment hallmark (90%) HP:0100543
7 craniosynostosis typical (50%) HP:0001363
8 limitation of joint mobility typical (50%) HP:0001376
9 skeletal dysplasia typical (50%) HP:0002652
10 abnormal form of the vertebral bodies typical (50%) HP:0003312
11 finger syndactyly typical (50%) HP:0006101
12 autosomal dominant inheritance HP:0000006
13 hydrocephalus HP:0000238
14 recurrent corneal erosions HP:0000495
15 proptosis HP:0000520
16 craniosynostosis HP:0001363
17 cloverleaf skull HP:0002676
18 elbow ankylosis HP:0003070
19 sporadic HP:0003745

Drugs & Therapeutics for Kleeblattschaedel Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Kleeblattschaedel Syndrome

Genetic Tests for Kleeblattschaedel Syndrome

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Anatomical Context for Kleeblattschaedel Syndrome

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MalaCards organs/tissues related to Kleeblattschaedel Syndrome:

33
Bone

Animal Models for Kleeblattschaedel Syndrome or affiliated genes

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Publications for Kleeblattschaedel Syndrome

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Variations for Kleeblattschaedel Syndrome

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Clinvar genetic disease variations for Kleeblattschaedel Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1ERFNM_006494.3(ERF): c.547C> T (p.Arg183Ter)single nucleotide variantPathogenicrs587777006GRCh37Chr 19, 42753717: 42753717
2ERFNM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs)deletionPathogenicrs587777007GRCh37Chr 19, 42753372: 42753373
3ERFNM_006494.3(ERF): c.256C> T (p.Arg86Cys)single nucleotide variantPathogenicrs587777008GRCh37Chr 19, 42754484: 42754484
4ERFNM_006494.3(ERF): c.194G> A (p.Arg65Gln)single nucleotide variantPathogenicrs587777009GRCh37Chr 19, 42754546: 42754546
5ERFNM_006494.3(ERF): c.1270C> T (p.Gln424Ter)single nucleotide variantPathogenicrs587777010GRCh37Chr 19, 42752994: 42752994

Expression for genes affiliated with Kleeblattschaedel Syndrome

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Search GEO for disease gene expression data for Kleeblattschaedel Syndrome.

Pathways for genes affiliated with Kleeblattschaedel Syndrome

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GO Terms for genes affiliated with Kleeblattschaedel Syndrome

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Sources for Kleeblattschaedel Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet