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Table 5: 
Gene mutations associated with cleft palate in humansa
GenesAssociated Conditions
Collagen genes, COL II and XIOtospondylomegaepiphyseal dysplasia,
achondrogenesis type II,
Stickler syndrome types I-III
Diastrophic dysplasia sulfate transporterDiastrophic dysplasia
FGFR2Apert syndrome
Homeobox MSX1Cleft palate and hypodontia
TGFβ R1 or TGFβR2Aortic aneurysm, arterial tortuosity, hypertelorism, cleft palate, bifid uvula, craniosynostosis
T-Box 1 (BX1)DiGeorge/Velo cardiofacial syndrome
T-Box 22 (TBX22)X-linked cleft palate and ankyloglossia
TCOF1Treacher Collins syndrome
TWISTSaethre-Chotzen syndrome
  • Note:—FGFR2 indicates fibroblast growth factor receptor 2.
  • ↵a Other genes and proteins associated with normal palatal formation include the following: Fgf-Shh signaling, Tbx22, BMPs, Jagged-2, Pax-9, serotonin, hyaluronan, PVRL1, TGF-β3, TGF-α, EGF, Lhx-8, Msx-1, and GABA (Fig 1). Table modified from Rice DP. Craniofacial anomalies: from development to molecular pathogenesis. Curr Mol Med 2005;5:699–722, Table 2, © Bentham Science Publishers.16