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Craniosynostosis

Disease definition

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.

ORPHA:1531

Classification level: Group of disorders
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive or Not applicable or Unknown 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q75.0
  • ICD-11: LB70.0
  • OMIM: -
  • UMLS: C0010278
  • MeSH: D003398
  • GARD: 6209
  • MedDRA: 10049889

  A summary on this disease is available in Español (2014) Français (2014) Nederlands (2014) Italiano (2004) Deutsch (2002)

Detailed information

Guidelines

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.