Crouzon Syndrome with Acanthosis Nigricans

Alternative Names

  • CAN
  • Crouzonodermoskeletal Syndrome
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

612247

Mode of Inheritance

Autosomal dominant

Gene Map Locus

4p16.3

Description

Crouzon syndrome with acanthosis nigricans is associated with mutation in FGFR3  gene.It is characterised by craniosynostosis and acanthosis nigricans.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612247.1Saudi ArabiaFemale Craniosynostosis; Proptosis... NM_000142.5:c.1172C>AHeterozygousAutosomal, DominantMaddirevula et al. 2018 Mutation is de novo....
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