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Craniosynostosis

Orpha number ORPHA1531
Synonym(s) -
Prevalence Unknown
Inheritance
  • Autosomal dominant
  • Autosomal recessive
  • Sporadic
  • Unknown
  • X-linked recessive
Age of onset Neonatal/infancy
ICD-10
  • Q75.0
OMIM -
UMLS
  • C0010278
MeSH
  • D003398
MedDRA
  • 10048907
  • 10049889
SNOMED CT
  • 57219006

Summary

Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome.


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Detailed information

Practical genetics
  • EN (2011)
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