• Musculoskeletal
  • Musculoskeletal abnormalities included hooked clavicles, 13 pairs of ribs, large hands and feet with long, slender fingers, widened metaphyses, and square-shaped vertebral bodies, which developed over time as a sign of muscular hypotonia. (mhmedical.com)
  • Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, cognitive disability, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. (nih.gov)