Table 1.

Common Clefting Syndromes With Their Associated Genetic Mutations and Clinical Features

Syndrome	Associated Gene or Genetic Pathway	Clinical features
Loeys‐Dietz Syndrome	TGFRβ1, TGFβR2, TGF‐β2	Craniosyostosis, cleft palate, and hypertelorism
Pierre Robin Sequence	BMPR1B	Micrognathia, glossoptosis, and cleft palate
Apert Syndrome (FGF2 mutation)	FGF2	Flat forehead, retracted midface, cleft palate, and hypertelorism, learning disability, poor joint mobility, and severe symmetric syndactyly of fingers and toes
Crouzon Syndrome	FGF2, FGF3	Flat forehead, midface hypoplasia, and cleft palate, normal intelligence, normal hands and feet
Van der Woude Syndrome	IRF6	Cleft lip and palate with lip pits
DiGeorge/Velocardiofacial Syndrome	TBX1	Cleft palate, congenital cardiac and renal abnormalities, neonatal hypocalcemia, micrognathia, low set ears, telecanthus
Stickler Syndrome	COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, or COL9A3	Cleft palate, bifid uvula, flat midface, hearing loss, retinal detachments, cataracts
Treacher Collins Syndrome	TCOF1, POLR1C or POLR1D	Cleft palate, conductive hearing loss, coloboma, micrognathia, microtia

Online Mendelian Inheritance in Man, OMIM (https://omim.org/).