Table 3.

Genotype–phenotype correlations of cleft palate with the FGFR2 S252W and P253R variants.

Study	Cohort			FGFR2 S252W		FGFR2 P253R		Notes	References
	Cohort Size	Abnormal Palate Number	%	Cleft Palate Fraction	Cleft Palate %	Cleft Palate Fraction	Cleft Palate %
Park et al. (1995)	36	Cleft palate in 16 patients	44.4	15/16	93.8	1/16	6.2		[16]
Slaney et al. (1996)	87	Soft palate cleft or bifid uvula in 37 patients	42.5	24/41	58.5	4/23	17.4		[78]
Lajeunie et al. (1999)	36	Cleft palate in 15 patients	41.7	12/23	52.2	2/12	16.7	One fetus with the S252F mutation also had a cleft palate	[17]
Sakai et al. (2001)	6	Cleft palate in 5 patients	83.3	5/5	100.0	0/1	0.0		[81]
Von Gernet et al. (2000)	21	Cleft palate in 11 patients	52.4	9/15	60.0	2/6	33.3		[79]
Kilcoyne et al. (2022)	51	Cleft palate or bifid uvula in 26 patients.	51.0	18/28	64.3	8/23	34.8		[80]