SCIENTIFIC BACKGROUND

FGFR3

The autosomal-dominantly inherited Muenke syndrome was defined as an independent craniosynostosis syndrome in 1996 as a result of molecular genetic diagnostics.

 

The frequency is estimated at 1:30,000. The coronal suture is usually affected on one or both sides, resulting in brachycephaly, midface hypoplasia, downward sloping eyelid axis and ptosis (droopy eyelid). Some mutation carriers have macrocephaly, but do not show any symptoms of craniosynostosis. A number of patients have a hearing impairment and some have developmental delay. Abnormalities of the hands, such as brachydactyly and clinodactyly, are mild and not present in all affected individuals; in some cases they can only be detected radiologically, such as cone epiphyses or distinctively-shaped middle phalanges.

Muenke syndrome is caused exclusively by the FGFR3-P250R mutation in the gene for fibroblast growth factor receptor 3. Before this homogeneous etiology was known, affected individuals were classified either as having one of the other craniosynostosis syndromes or as having non-specific craniosynostosis, which indicates the highly variable expressivity.

 

References

Kruszka et al. 2016, Am J Med Genet A doi: 10.1002/ajmg.a.37528 / Cunningham et al. 2007, Orthod Craniofacial Res 10:67 / Kress et al. 2006, Eur J Hum Genet 14:39 / Rannan-Eliya 2004, Hum Genet 115:200 / Muenke et al. 1997, Am J Hum Genet 60:555

GENES

FGFR3
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