Does my baby have a syndrome? This can be a loaded question. Sometimes the answer is …. we don’t know.
Craniosynostosis syndromes are ever-evolving. There are more than 180 syndromes that manifest craniosynostosis, and significant progress has been made in understanding their clinical and molecular aspects.
Craniosynostosis can be divided into two main groups: syndromic and nonsyndromic.
FGFR2, FGFR3, FGFR1, TWIST1 and EFNB1 genes are major causative genes of genetic syndromes associated with craniosynostosis.
Syndromes most frequently associated with craniosynostosis include Apert, Crouzon, Pfeiffer, Carpenter, Craniofrontonasal Dysplasia, Muenke, Beare-Stevenson Cutis Gyrata, Baller-Gerold Syndrome, Antley-Bixler Syndrome, Saethre-Chotzen, Boston-Type Craniosynostosis.
In the past decade, significant progress has been made in understanding the genetic basis of certain craniosynostosis syndromes, with mutations in the fibroblast growth factor (FGF) signaling pathway playing a central role.
CAPPSKIDS remains dedicated to working with various teams and studies to help better understand Craniosynostosis and the genetics behind this condition.
If you are concerned that your child may have a Craniosynostosis Syndrome, contact us at firstname.lastname@example.org
It is extremely important that your child be evaluated and treated by a multidisciplinary craniofacial team that is experienced in treating syndromic and complex cases of Craniosynostosis.