Fragile X Syndrome

Category: Genetic Condition

Prevalence: In The US: Approximately 1 in 2500-4000 males and 1 in 7000-8000 females.

Also Called: FRAXA Syndrome, Martin-Bell Syndrome, Marker X Syndrome

Cleveland Clinic

U.S. National Library of Medicine



Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behavior such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features 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.

Fragile X Syndrome In The News

Scientists Successfully Reduce Autism Symptoms in Mice Through Gene Editing

Read More    published: 06/27/2018

Indo-US Team Comes Up With Cure for Brain Disorder

Read More    published: 12/11/2017

Study Finds Link Between Fragile X Syndrome Gene and Dysregulated Tissue Growth

Read More    published: 12/05/2017

Doctors Push for All Women to Test for Intellectual Disability Gene

Read More    published: 07/01/2017

Methylation Analysis in Newborn Screening for Fragile X Syndrome

Read More    published: 10/03/2016

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