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פאנלים
Craniosynostosis
GC_15
Last update: 26.01.2026
Craniosynostosis is characterized by premature fusion of one or more cranial sutures, resulting in abnormal skull growth and, in some cases, increased intracranial pressure, craniofacial asymmetry, or developmental complications. It may occur as an isolated finding or as part of a broader genetic syndrome involving craniofacial, limb, cardiac, or neurodevelopmental abnormalities.
This panel includes genes associated with both syndromic and nonsyndromic forms of craniosynostosis, including the major craniosynostosis syndromes as well as other genetic disorders in which premature cranial suture fusion is a prominent feature.
This panel is recommended for patients with isolated or syndromic craniosynostosis, particularly when premature cranial suture fusion is the primary presenting feature or when associated congenital, skeletal, craniofacial, or neurodevelopmental abnormalities suggest an underlying genetic syndrome.
ACTB, ACTG1, ADAMTSL4, AHDC1, ALPL, ALX3, ALX4, ANKH, ARID1B, ARSB, ASXL1, ASXL3, AXIN2, B3GAT3, BCL11B, BMP4, BRAF, CD96, CDC45, CDK13, CDT1, CHD5, CHD7, COLEC11, CTSK, CYP26B1, DDX3X, DPF2, DPH1, EDNRB, EFNA4, EFNB1, ERF, ESCO2, FAM20C, FBN1, FBXO11, FGF10, FGF9, FGFR1, FGFR2, FGFR3, FLNA, FLNB, FREM1, GDF5, GLI3, GNAS, GNPTAB, GPC3, HNRNPK, HUWE1, IDS, IDUA, IFT122, IFT140, IFT43, IGF1R, IHH, IL11RA, IL6ST, IRX5, JAG1, KAT6A, KAT6B, KMT2D, KPTN, KRAS, LTBP1, MAN2B1, MASP1, MEGF8, MSX2, NFIA, NFIX, NOG, OGT, ORC1, ORC4, ORC6, P4HB, PAX3, PHEX, PJA1, POR, PPP1CB, PPP3CA, PRRX1, PTCH1, PTPN11, RAB23, RECQL4, RNU12, RSPRY1, RUNX2, SCARF2, SEC24D, SHOC2, SIX1, SIX2, SKI, SLC25A24, SMAD2, SMAD3, SMAD6, SMO, SOX10, SOX6, SPECC1L, SPRY1, STAT3, TCF12, TCOF1, TFAP2B, TGFB2, TGFB3, TGFBR1, TGFBR2, TLK2, TMCO1, TRAF7, TWIST1, TWIST2, WDR19, WDR35, ZEB2, ZIC1, ZNF462
4th Floor, Davidoff Building,
Beilinson Hospital
39 Jabotinski St., Petah Tikva
49100 ISRAEL
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