MCID: KLB002
MIFTS: 15

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 48 68
Isolated Cloverleaf Skull Syndrome 48 54
 
Cloverleaf Skull Syndrome 48 27
Kleeblattschaedel Deformity Syndrome 48

Characteristics:

Orphanet epidemiological data:

54
isolated cloverleaf skull syndrome:
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood


Classifications:



External Ids:

Orphanet54 ORPHA2343
ICD10 via Orphanet31 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 Array, Array and Array. 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 ii11.2

Symptoms & Phenotypes for Kleeblattschaedel Syndrome

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Human phenotypes related to Kleeblattschaedel Syndrome:

 54 64 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening64 54 Very frequent (99-80%) HP:0000272
2 high forehead64 54 Very frequent (99-80%) HP:0000348
3 low-set, posteriorly rotated ears64 54 Very frequent (99-80%) HP:0000368
4 convex nasal ridge64 54 Very frequent (99-80%) HP:0000444
5 proptosis64 54 Very frequent (99-80%) HP:0000520
6 craniosynostosis64 54 Frequent (79-30%) HP:0001363
7 limitation of joint mobility64 54 Frequent (79-30%) HP:0001376
8 skeletal dysplasia64 54 Frequent (79-30%) HP:0002652
9 abnormal form of the vertebral bodies64 54 Frequent (79-30%) HP:0003312
10 finger syndactyly64 54 Frequent (79-30%) HP:0006101
11 midface retrusion64 54 Very frequent (99-80%) HP:0011800
12 cognitive impairment64 54 Very frequent (99-80%) HP:0100543
13 hydrocephalus64 HP:0000238
14 recurrent corneal erosions64 HP:0000495
15 cloverleaf skull64 HP:0002676
16 elbow ankylosis64 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 Skull27

Anatomical Context for Kleeblattschaedel Syndrome

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MalaCards organs/tissues related to Kleeblattschaedel Syndrome:

36
Bone

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet