This condition is caused by
mosaicmissense mutations in the
SMO gene on
chromosome 7. The causative mutation is typically present in less than 50% of an individual's body tissues. It is suggested that the mutation occurs post-zygotically during early embryonic development.[2]
Management
Management of CurryâJones syndrome depends on an individual's symptom profile.
Epidemiology
CurryâJones syndrome has been described in 13 people worldwide.[2][3][4][5][6][7]
Discovery
The first case of CurryâJones syndrome was reported by
Cynthia J.R. Curry et al. at the 1987 David W. Smith Workshop on Malformations and Morphogenesis. A similar patient was reported by M.C. Jones.[8] By 1988, it was recognized by the name of CurryâJones syndrome.[9]
^Gorlin RJ, Cohen MM, Levin LS (1990). "Syndromes with Craniosynostosis: Miscellaneous Syndromes". Syndromes of the Head and Neck (3 ed.). New York: Oxford University Press.
ISBN0-19-504518-1.{{
cite book}}: CS1 maint: multiple names: authors list (
link)