RYR1 and ankylosing spondylitis: For example, RYR1 mutations are implicated in central core disease and fetal ankylosing spondylitis [68], gene dosage effects in specific regions of partial chromosomal trisomies affect foot development [69], and Mendelian inheritance patterns are observed in CML abnormalities, with approximately 12% of congenital spinal deformities exhibiting a monogenic etiology, and polydactyly often following an autosomal dominant inheritance pattern [70].