You may find this interesting Description ...
You may find this interesting
Description
Fragile X is an inherited disorder associated with mental retardation and a characteristic physical appearance. It is the most common cause of mental retardation in boys. It is caused by a change in a gene on the X chromosome (female sex chromosome). A small part of the gene is repeated randomly resulting in the symptoms associated with this syndrome. More severe symptoms occur with abnormalities that are repeated more frequently.
Symptoms
Symptoms vary depending on the severity of disease. They include an elongated face, large ears, flat feet, prominent chin and forehead and crossed eyes. Cognitive difficulties are present and range from learning disabilities and hyperactivity to severe mental retardation. Physical problems associated with the disorder include frequent ear infections, seizures and very elastic joints.
Tests
Common tests used for diagnosis and treatment
Workup:
A history and physical will be performed. The doctor will focus on physical and behavioral symptoms to make the diagnosis. Patients may be referred for genetic testing and analysis of the FMR1 gene.
Other Specific Tests: genetic testing
Specialists:
Pediatrics, Pediatric Neurology, Pediatric and Adolescent Psychiatry, Clinical Genetics
Workup:
A history and physical will be performed. The doctor will focus on physical and behavioral symptoms to make the diagnosis. Patients may be referred for genetic testing and analysis of the FMR1 gene.
Other Specific Tests: genetic testing
Specialists:
Pediatrics, Pediatric Neurology, Pediatric and Adolescent Psychiatry, Clinical Genetics
Treatment
There is no specific treatment for Fragile X syndrome. Educational programs, psychologic counseling, occupational therapy and medications to treat hyperactivity have been used with success to improve the level of functioning in these individuals.