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Crouzon syndrome - acanthosis nigricans

Orpha number ORPHA93262
Synonym(s) Crouzono-dermoskeletal syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q75.1
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Five percent of patients with Crouzon syndrome (see this term) have an acanthosis nigricans (see this term) usually present after birth. They are said to have Crouzon syndrome with acanthosis nigricans (AN; see this term). Less than fifty cases of Crouzon syndrome with AN have been reported in the literature to date. Chiari malformation, hydrocephalus, and atresia or stenosis of the choanas may suggest the diagnosis of Crouzon syndrome with AN even before acanthosis appears. This syndrome is caused by an Ala391 to Glu mutation in the transmembrane (TM) domain of the FGFR3 gene,that encodes a protein from the same fibroblast growth factor receptor (FGFR) family as FGFR2, involved in Crouzon syndrome.


Last update: November 2010

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Detailed information
Clinical genetics review
  • EN (2011)
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