MCID: MSX001
MIFTS: 17

Msx2-Related Craniosynostosis malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Msx2-Related Craniosynostosis

About this section
Sources:
22GeneTests, 65UMLS, 51Orphanet, 47Novoseek, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Msx2-Related Craniosynostosis:

Name: Msx2-Related Craniosynostosis 22
Craniosynostosis, Boston Type 22 51
Craniosynostosis, Type 2 22 65
Warman-Mulliken-Hayward Syndrome 51
 
Craniosynostosis, Boston-Type 47
Craniosynostosis, Warman Type 51
Craniosynostosis Type Ii 22
Crs2 22

Characteristics:

Orphanet epidemiological data:

51
craniosynostosis, boston type:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal

Classifications:



External Ids:

Orphanet51 1541
ICD10 via Orphanet28 Q75.8
UMLS65 C1858160

Summaries for Msx2-Related Craniosynostosis

About this section
MalaCards based summary: Msx2-Related Craniosynostosis, also known as craniosynostosis, boston type, is related to warman mulliken hayward syndrome and craniosynostosis, type 2, and has symptoms including craniostenosis/craniosynostosis/sutural synostosis, basilary impression/invagination/cranio-spinal malformation/platybasia and flat supraorbital ridge. An important gene associated with Msx2-Related Craniosynostosis is MSX2 (Msh Homeobox 2). Affiliated tissues include bone.

Related Diseases for Msx2-Related Craniosynostosis

About this section

Symptoms for Msx2-Related Craniosynostosis

About this section

Symptoms:

 51 (show all 10)
  • craniostenosis/craniosynostosis/sutural synostosis
  • basilary impression/invagination/cranio-spinal malformation/platybasia
  • flat supraorbital ridge
  • autosomal dominant inheritance
  • turricephaly/oxycephaly/acrocephaly
  • frontal bossing/prominent forehead
  • myopia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • fingerlike/triphalangeal thumb
  • seizures/epilepsy/absences/spasms/status epilepticus

Drugs & Therapeutics for Msx2-Related Craniosynostosis

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Msx2-Related Craniosynostosis

Genetic Tests for Msx2-Related Craniosynostosis

About this section

Genetic tests related to Msx2-Related Craniosynostosis:

id Genetic test Affiliating Genes
1 Msx2-Related Craniosynostosis22 MSX2

Anatomical Context for Msx2-Related Craniosynostosis

About this section

MalaCards organs/tissues related to Msx2-Related Craniosynostosis:

33
Bone

Animal Models for Msx2-Related Craniosynostosis or affiliated genes

About this section

Publications for Msx2-Related Craniosynostosis

About this section

Variations for Msx2-Related Craniosynostosis

About this section

Expression for genes affiliated with Msx2-Related Craniosynostosis

About this section
Search GEO for disease gene expression data for Msx2-Related Craniosynostosis.

Pathways for genes affiliated with Msx2-Related Craniosynostosis

About this section

GO Terms for genes affiliated with Msx2-Related Craniosynostosis

About this section

Sources for Msx2-Related Craniosynostosis

About this section
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