MCID: KLB002
MIFTS: 15

Kleeblattschaedel Syndrome malady

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Kleeblattschaedel Syndrome

Aliases & Descriptions for Kleeblattschaedel Syndrome:

Name: Kleeblattschaedel Syndrome 50 69
Isolated Cloverleaf Skull Syndrome 50 56
Cloverleaf Skull Syndrome 50 29
Kleeblattschaedel Deformity Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
isolated cloverleaf skull syndrome
Inheritance: Not applicable; Age of onset: Neonatal; Age of death: early childhood;

HPO:

32
kleeblattschaedel syndrome:
Inheritance autosomal dominant inheritance sporadic


Classifications:



External Ids:

Orphanet 56 ORPHA2343
ICD10 via Orphanet 34 Q75.0

Summaries for Kleeblattschaedel Syndrome

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, finger syndactyly and skeletal dysplasia. An important gene associated with Kleeblattschaedel Syndrome is ERF (ETS2 Repressor Factor). Affiliated tissues include bone.

Related Diseases for Kleeblattschaedel Syndrome

Diseases related to Kleeblattschaedel Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 thanatophoric dysplasia, type ii 11.2

Symptoms & Phenotypes for Kleeblattschaedel Syndrome

Human phenotypes related to Kleeblattschaedel Syndrome:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Very frequent (99-80%) HP:0000272
2 finger syndactyly 56 32 Frequent (79-30%) HP:0006101
3 skeletal dysplasia 56 32 Frequent (79-30%) HP:0002652
4 cognitive impairment 56 32 Very frequent (99-80%) HP:0100543
5 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
6 abnormal form of the vertebral bodies 56 32 Frequent (79-30%) HP:0003312
7 low-set, posteriorly rotated ears 56 32 Very frequent (99-80%) HP:0000368
8 high forehead 56 32 Very frequent (99-80%) HP:0000348
9 midface retrusion 56 32 Very frequent (99-80%) HP:0011800
10 convex nasal ridge 56 32 Very frequent (99-80%) HP:0000444
11 proptosis 56 32 Very frequent (99-80%) HP:0000520
12 craniosynostosis 56 32 Frequent (79-30%) HP:0001363
13 hydrocephalus 32 HP:0000238
14 cloverleaf skull 32 HP:0002676
15 elbow ankylosis 32 HP:0003070
16 recurrent corneal erosions 32 HP:0000495

Drugs & Therapeutics for Kleeblattschaedel Syndrome

Search Clinical Trials , NIH Clinical Center for Kleeblattschaedel Syndrome

Genetic Tests for Kleeblattschaedel Syndrome

Genetic tests related to Kleeblattschaedel Syndrome:

id Genetic test Affiliating Genes
1 Cloverleaf Skull 29

Anatomical Context for Kleeblattschaedel Syndrome

MalaCards organs/tissues related to Kleeblattschaedel Syndrome:

39
Bone

Publications for Kleeblattschaedel Syndrome

Variations for Kleeblattschaedel Syndrome

Expression for Kleeblattschaedel Syndrome

Search GEO for disease gene expression data for Kleeblattschaedel Syndrome.

Pathways for Kleeblattschaedel Syndrome

GO Terms for Kleeblattschaedel Syndrome

Sources for Kleeblattschaedel Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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