Fragile X syndrome

Fragile X syndrome is characterized by developmental problems including intellectual disability and delayed speech and language development. Males are usually more severely affected than females. Additional features may include anxiety; attention deficit disorder (ADD); features of autism spectrum disorders that affect communication and social interaction; and seizures. Most males and some females with fragile X syndrome have characteristic physical features that become more apparent with age. These features may include a long and narrow face; large ears; a prominent jaw and forehead; unusually flexible fingers; flat feet; and in males, enlarged testicles (macroorchidism) after puberty.^[1]

A comprehensive search of the resources available to us did not identify a heighted risk for fractures among individuals with Fragile X syndrome. However, other skeletal and connective tissue problems may be present, including flat feet (pes planus), soft velvet-like skin, joint hypermobility (especially in the fingers), congenital hip dislocation, scoliosis, and clubfoot.^[2][3]