Du Pan syndrome

Du Pan syndrome, also known as fibular aplasia-complex brachydactyly syndrome, is an extremely rare genetic condition that affects bone growth and is linked to changes in the GDF5 gene. It is a form of acromesomelic dysplasia marked by an underdeveloped or absent fibula and short, ball-like fingers and toes, often with fused toes, missing nails, clubfoot, restricted joints and short stature, while the brain, head and trunk are not affected. It is usually inherited in an autosomal recessive way, with rare dominant cases, and a related change in the BMPR1B gene gives a similar picture. Fewer than 30 people had been diagnosed worldwide by April 2023. Care is multidisciplinary, with orthopedic surgery, physical therapy, assistive devices, pain management and genetic counselling.