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 47 67
Isolated Cloverleaf Skull Syndrome 47 53
 
Cloverleaf Skull Syndrome 47 26
Kleeblattschaedel Deformity Syndrome 47

Characteristics:

Orphanet epidemiological data:

53
isolated cloverleaf skull syndrome:
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood


Classifications:



External Ids:

Orphanet53 ORPHA2343
ICD10 via Orphanet30 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 ii11.2

Symptoms for Kleeblattschaedel Syndrome

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Human phenotypes related to Kleeblattschaedel Syndrome:

 63 53 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening63 53 hallmark (90%) Very frequent (99-80%) HP:0000272
2 high forehead63 53 hallmark (90%) Very frequent (99-80%) HP:0000348
3 low-set, posteriorly rotated ears63 53 hallmark (90%) Very frequent (99-80%) HP:0000368
4 convex nasal ridge63 53 hallmark (90%) Very frequent (99-80%) HP:0000444
5 proptosis63 53 hallmark (90%) Very frequent (99-80%) HP:0000520
6 cognitive impairment63 53 hallmark (90%) Very frequent (99-80%) HP:0100543
7 craniosynostosis63 53 typical (50%) Frequent (79-30%) HP:0001363
8 limitation of joint mobility63 53 typical (50%) Frequent (79-30%) HP:0001376
9 skeletal dysplasia63 53 typical (50%) Frequent (79-30%) HP:0002652
10 abnormal form of the vertebral bodies63 53 typical (50%) Frequent (79-30%) HP:0003312
11 finger syndactyly63 53 typical (50%) Frequent (79-30%) HP:0006101
12 hydrocephalus63 HP:0000238
13 recurrent corneal erosions63 HP:0000495
14 cloverleaf skull63 HP:0002676
15 elbow ankylosis63 HP:0003070
16 midface retrusion53 Very frequent (99-80%)

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 Skull26

Anatomical Context for Kleeblattschaedel Syndrome

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MalaCards organs/tissues related to Kleeblattschaedel Syndrome:

35
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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet