Rhea Ravishankar

Clubfoot: genetic causes, diagnosis, and treatment

Started May 6, 2024

Abstract or project description

Clubfoot is a genetic deformity seen in 1 or 2 of every 1,000 births. Without early detection and treatment, clubfoot can lead to severe consequences, including inability to walk. Reports of clubfoot date as far back as 400 BC, and modern biology research allows us to dig deeper into the genetic causes of clubfoot. Genes with mutations linked to clubfoot include FLNB, PITX1, TBX4, and FSTL5. Currently, clubfoot is detected prenatally via ultrasounds, allowing for an earlier treatment plan to improve the child’s chance of recovery. In this paper, I propose to detect clubfoot through fetal DNA tests, looking for the genes proven to cause clubfoot, which would also increase diagnosis rates in underdeveloped countries. Early diagnosis leads to a higher chance of correction. Treatment remains mostly unchanged today, but currently uses more surgical techniques to guide the foot back into place, which is a part of the Ponseti method. Although this method is the most successful treatment and the standard of care, Botox is another FDA approved treatment. Finally, the paper spotlights the importance of treating clubfoot early and following treatment steps carefully to ensure that clubfoot does not relapse. Treating clubfoot early and carefully following treatment plans ensures relapse does not occur, allowing the child to live without a handicap.