Fragile X syndrome
What are the main physical features and medical issues associated with fragile X syndrome?
Most infants and younger children do not show any obvious physical signs of fragile X syndrome; physical features start to be noticeable around the time of puberty. Some persons with fragile X syndrome have more physical characteristics, and some have fewer.
Common physical features of fragile X syndrome include: a long narrow face, prominent forehead, protruding ears, high-arched palate, flat feet, and macroorchidism (abnormally large testes). Connective tissue (the tissues of the body that bind, connect, and support other tissues and organs) issues can also be seen, including hyperflexibility of the joints (double-jointed) and cardiac issues such as mitral valve prolapse. Strabismus (abnormal alignment of the eyes; cross-eyed), seizures, chronic ear infections, sleep disorders, gastroesophageal reflux, and weight gain are believed to be more common in individuals with fragile X syndrome. There is still some controversy regarding the association of GI disturbances (such as loose stool) and obstructive sleep apnea with fragile X syndrome.
To learn more information and find a fragile X syndrome clinic near you, please visit https://fragilex.org/treatment-intervention/fragile-x-clinics/.
Kidd, Sharon A., et al. "Fragile X syndrome: a review of associated medical problems." Pediatrics 134.5 (2014): 995-1005.