Fragile X syndrome
Other Names for this Disease
- Marker X syndrome
- Martin-Bell syndrome
- FRAXA syndrome
- Fra(X) syndrome
Your QuestionAre individuals with Fragile X syndrome at a higher risk for fractures than individuals without Fragile X?
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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.
Last updated: 1/29/2015
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.
Last updated: 6/5/2013
- Fragile X syndrome. Genetics Home Reference. April 2012; http://www.ghr.nlm.nih.gov/condition/fragile-x-syndrome.
- Hershe JH, Saul RA. Health Supervision for Children With Fragile X Syndrome. Pediatrics. May 1, 2011; http://pediatrics.aappublications.org/content/127/5/994.full.pdf+html. Accessed 6/5/2013.
- Fragile X Syndrome. National Fragile X Foundation. 2013; http://www.fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/. Accessed 6/5/2013.