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FGFR-Related Craniosynostosis Syndromes.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
1998 Oct 20 [updated 2011 Jun 7].

Excerpt

CLINICAL CHARACTERISTICS:

The eight disorders comprising the FGFR-related craniosynostosis spectrum are Pfeiffer syndrome, Apert syndrome, Crouzon syndrome, Beare-Stevenson syndrome, FGFR2-related isolated coronal synostosis, Jackson-Weiss syndrome, Crouzon syndrome with acanthosis nigricans (AN), and Muenke syndrome (isolated coronal synostosis caused by the p.Pro250Arg pathogenic variant in FGFR3). Muenke syndrome and FGFR2-related isolated coronal synostosis are characterized only by uni- or bicoronal craniosynostosis; the remainder are characterized by bicoronal craniosynostosis or cloverleaf skull, distinctive facial features, and variable hand and foot findings.

DIAGNOSIS/TESTING:

The diagnosis of Muenke syndrome is based on identification of the p.Pro250Arg pathogenic variant in FGFR3; the diagnosis of FGFR2-related isolated coronal synostosis is based on identification of a FGFR2 pathogenic variant. The diagnosis of the other six FGFR-related craniosynostosis syndromes is based on clinical findings; molecular genetic testing of FGFR1, FGFR2, and FGFR3 may be helpful in establishing the specific diagnosis in questionable cases.

MANAGEMENT:

Treatment of manifestations: Management by a multidisciplinary craniofacial clinic affiliated with a major pediatric medical center when possible; syndromic craniosynostosis usually requires a series of staged surgical procedures (craniotomy and fronto-orbital advancement) tailored to individual needs; for syndromic craniosynostosis, the first surgery is often as early as age three months, for nonsyndromic craniosynostosis the first surgery is often between ages six months and one year; congenital spine anomalies need immediate attention; surgical correction of limb defects depends on the nature of the skeletal anomalies. Prevention of secondary complications: Early treatment of craniofacial anomalies may reduce the risk for secondary complications such as hydrocephalus and cognitive impairment; ophthalmologic lubrication can prevent exposure keratopathy in those with severe proptosis. Surveillance: For hydrocephalus in those at increased risk. Evaluation of relatives at risk: Clinical and radiographic evaluation, or molecular genetic testing if the pathogenic variant in the family is known, so that mildly affected relatives can benefit from early intervention.

GENETIC COUNSELING:

The FGFR-related craniosynostosis syndromes are inherited in an autosomal dominant manner. Affected individuals have a 50% chance of passing the pathogenic variant to each child. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant has been identified in the family; however, its use is limited by poor predictive value.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

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