Table 3 Genetic classification of Klippel–Feil syndrome. MIM–Mendelian Inheritance in Men
From: Molecular landscape of congenital vertebral malformations: recent discoveries and future directions
Genetic form of Klippel–Feil syndrome (KFS) | Inheritance | Gene | Overlap with morphological types of Klippel–Feil syndrome | References |
|---|---|---|---|---|
KFS1 | Autosomal dominant | GDF6 (MIM: 601147) | Types I, II, and III | [184] |
KFS2 | Autosomal recessive | MEOX1 (MIM: 600147) | Types I, II, and III | [54] |
KFS3 | Autosomal dominant | GDF3 (MIM: 606522) | Type II | [183] |
KFS4 | Autosomal recessive | MYO18B (MIM: 607295) | None | [57] |