SCIENTIFIC BACKGROUND

FGFR3

Crouzon syndrome occurs with a frequency of approx. 1:63,000 and accounts for around 5% of all craniosynostoses. The coronal suture is usually affected, also in combination with other suture synostoses. This usually results in brachycephaly. The short anterior cranial fossa leads to exophthalmos, often with strabismus. Visual acuity may be impaired. In Crouzon syndrome, the midface is also hypoplastic, with a prominent nose and moderate mandibular prognathism. Vertebral fusions in the cervical spine are reported to be present in approximately 30% of patients and mild hearing impairment in up to 50%. Hands and feet show no malformations; intelligence is usually normal.

 

Crouzon syndrome occurs sporadically in about 50% of cases and is familial in 50% of cases. Various changes in the FGFR2 gene have been found to be the cause. In sporadic cases, these are only on the paternal allele, which, as in Apert syndrome, indicates a strong paternal age effect. Currently, only surgical treatment options are available.

 

A special form is Crouzon syndrome with acanthosis nigricans, which is caused by the Ala391Glu variant in the FGFR3 gene.

 

References

Roscioli et al. 2013, Am J Med Genet C Semin Med Genet 163C:259 / Derderia et Seaward 2012, Semin Plast Surg 26:64 / Arnaud-Lopez 2007, Clin Genet 72:405 / Eswarakumar et al. 2006, Proc Natl Acad Sci USA 103:18603 / Cohen 2005, Am J Med Genet 136:313 / Grosso et al. 2004, Am J Med Genet 129:300

GENES

FGFR3
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