Syndromes Associated with Craniosynostosis
Craniosynostosis, a premature fusion or delayed growth of sutures that hold together the bony plates of the infant skull as it grows, usually occurs alone, without the involvement of other disorders. However, syndromic craniosynostosis is a more complex group of syndromes. Along with typical skull growth and shape issues, these inherited syndromes are caused by gene mutations.
The eight disorders comprising the FGFR-related craniosynostosis spectrum include (but not limited to):
- Apert – A chromosome 10 gene mutation, and one of two most common associated syndromes Also involves syndactaly (webbing) of the hands and feet. Apert syndrome occurs in approximately 1 in 100,000 births, rarely genetic. While symptoms of Apert & Crouzon are similar, Apert presents with less variability between cases and deformities are more severe.
- Crouzon – The most common of the craniosynostosis syndromes Both Apert and Crouzon result from the fusion of the bicoronal suture which goes from ear to ear on the top of the head and down both sides of the skull, resulting in a very flat, recessed forehead. Crouzon syndrome occurs in approximately 1 in 25,000 births, sometimes genetic. Severity can range from mild, with subtle midface characteristics, to severe, with multiple cranial sutures fused and striking midface and eye problems.
- Beare-Stevenson syndrome
- Pfeiffer – Also affects the growth of the hands and feet
- FGFR2-related isolated coronal synostosis
- Carpenter – Extremely rare; affects growth of skull, fingers, and toes
- Jackson-Weiss syndrome
- 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.
Children with craniosynostosis may also have fusion of the cranial base and midface sutures, and shallow eye sockets, causing a flat midface appearance and protruding eyes.
Treatment for these syndromes requires different or additional surgical techniques, as compared to single-defect craniosynostosis.
There are a number of associated syndromes not listed here. For more information contact firstname.lastname@example.org.