MCID: KLB002
MIFTS: 14

Kleeblattschaedel Syndrome malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Kleeblattschaedel Syndrome

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Aliases & Descriptions for Kleeblattschaedel Syndrome:

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

Characteristics:

Orphanet epidemiological data:

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


Classifications:



External Ids:

Orphanet51 2343
ICD10 via Orphanet28 Q75.0
UMLS65 C0432126

Summaries for Kleeblattschaedel Syndrome

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MalaCards based summary: Kleeblattschaedel Syndrome, also known as isolated cloverleaf skull syndrome, is related to thanatophoric dysplasia, type ii, 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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Diseases related to Kleeblattschaedel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thanatophoric dysplasia, type ii11.7

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 17)
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 elbow ankylosis HP:0003070
13 cloverleaf skull HP:0002676
14 craniosynostosis HP:0001363
15 proptosis HP:0000520
16 recurrent corneal erosions HP:0000495
17 hydrocephalus HP:0000238

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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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