Panel 16: Craniosynostosis


Includes:

All genes associated with craniosynostosis

Craniosynostosis is defined as congenital malformation in which one or more cranial sutures of newborn or infant are closed abnormally, prematurely.

Depending on the suture closes early distinguished:

• Scaphocephaly (sagittal suture): long, narrow skull. It is the most frequent (60%)
• Brachycephaly (both coronal sutures): (20%) short, broad skull, with prominent forehead.
• Plagiocephaly (coronal suture or lambdoid): asymmetrical skull.
• Trigonocephaly (metopic): Front narrow and triangular, hypotelorism.
• Oxycephaly or turricephaly (coronal and sagittal sutures): narrow and very high skull.

NMG16: Craniosynostosis

Panel 16: Craniosynostosis

Included genes:

FBN1 FGFR2 IL11RA TGFBR1
TWIST1 MSX2 FREM1 MASP1
FGFR3 RECQL4 FGFR1 COLEC11
GLI3 EFNB1 RAB23 IFT122
CYP26B1

Download pdf panel:

pdf filePanel 16: Craniosynostosis