MCID: KLB002
MIFTS: 14

Kleeblattschaedel Syndrome malady

Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Kleeblattschaedel Syndrome

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Sources:
42NIH Rare Diseases, 61UMLS, 48Orphanet, 26ICD10 via Orphanet
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Aliases & Descriptions for Kleeblattschaedel Syndrome:

Name: Kleeblattschaedel Syndrome 42 61
Isolated Cloverleaf Skull Syndrome 42 48
 
Kleeblattschaedel Deformity Syndrome 42
Cloverleaf Skull Syndrome 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
isolated cloverleaf skull syndrome:
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood


External Ids:

Orphanet48 2343
ICD10 via Orphanet26 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:

 48 (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 18)
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 elbow ankylosis HP:0003070
18 sporadic HP:0003745

Drugs & Therapeutics for Kleeblattschaedel Syndrome

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Drug clinical trials:

Search ClinicalTrials for Kleeblattschaedel Syndrome

Search 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:

31
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 variantPathogenicGRCh37Chr 19, 42753717: 42753717
2ERFNM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs)deletionPathogenicGRCh37Chr 19, 42753372: 42753373
3ERFNM_006494.3(ERF): c.256C> T (p.Arg86Cys)single nucleotide variantPathogenicGRCh37Chr 19, 42754484: 42754484
4ERFNM_006494.3(ERF): c.194G> A (p.Arg65Gln)single nucleotide variantPathogenicGRCh37Chr 19, 42754546: 42754546
5ERFNM_006494.3(ERF): c.1270C> T (p.Gln424Ter)single nucleotide variantPathogenicGRCh37Chr 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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet