|This syndrome was originally described in 1912 by a
French neurosurgeon. He described four essential
characteristics: exorbitism, retromaxillism,
inframaxillism and parodoxic retrogenia.
incidence of this syndrome appears to be approximately
one in 25,000 in the general population. It is inherited
as an autosomal dominant pattern with variable
expression. However, approximately 25% of reported cases
have no family history and represent a new mutation.
For those interested in learning more about the
genetics of Crouzon syndrome, meeting with a geneticist
can provide the opportunity for an interactive
discussion. The Donald Gordon Medical Centre in
Johannesburg has registered Geneticists.