Craniosynostosis

Alias:
Premature Closure of Cranial Sutures
Craniosynostosis Syndrome
Congenital Ossification of Sutures of Skull
Congenital Ossification of Cranial Sutures
Congenital Imperfect Closure Skull
Premature Closure Cranium Sutures
Deficiency of Craniofacial Axis
Imperfect Fusion of Skull
Imperfect Closure Skull
Craniosynostoses
Craniostenosis
Craniostosis
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Craniosynostosis, also known as premature closure of cranial sutures, is related to muenke syndrome and jackson-weiss syndrome. An important gene associated with Craniosynostosis is FGFR2 (Fibroblast Growth Factor Receptor 2), and among its related pathways/superpathways are ERK Signaling and PAK Pathway. The drugs Tranexamic acid and Coagulants have been mentioned in the context of this disorder. Affiliated tissues include Bone and brain, and related phenotypes are Decreased viability in pancreas lineage and nervous system
Related ID:
MESH:D003398
ICD11:458033798

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
AD
AR
XL
Newborn
1-5/10000
117
1375
18

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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