MCID: KLB002
MIFTS: 16

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 46 66
Isolated Cloverleaf Skull Syndrome 46 52
 
Cloverleaf Skull Syndrome 46 25
Kleeblattschaedel Deformity Syndrome 46

Characteristics:

Orphanet epidemiological data:

52
isolated cloverleaf skull syndrome:
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood



Classifications:



External Ids:

Orphanet52 ORPHA2343
ICD10 via Orphanet29 Q75.0

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 ii11.3

Symptoms for Kleeblattschaedel Syndrome

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Symptoms:

 52 (show all 12)
  • malar flattening
  • high forehead
  • low-set, posteriorly rotated ears
  • convex nasal ridge
  • proptosis
  • craniosynostosis
  • limitation of joint mobility
  • skeletal dysplasia
  • abnormal form of the vertebral bodies
  • finger syndactyly
  • midface retrusion
  • cognitive impairment

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

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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Genetic tests related to Kleeblattschaedel Syndrome:

id Genetic test Affiliating Genes
1 Cloverleaf Skull25

Anatomical Context for Kleeblattschaedel Syndrome

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MalaCards organs/tissues related to Kleeblattschaedel Syndrome:

34
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet