Fragile X Syndrome Evaluation
Evaluation of fragile X syndrome begins with a detailed history and physical examination. A family history of mental retardation can be an important clue to the diagnosis.
Physical findings in a person with fragile X syndrome may include:
- Long thin face
- Enlarged testicles
- Prominent jaw
- Large ears
- Small face
- Flat feet
- Heart murmur of mitral valve prolapse
- Hyperextensibility of joints
Molecular genetic testing is necessary to confirm the diagnosis of fragile X syndrome.
Continue to Fragile X Syndrome Treatment
- Dolen G, Bear MF. Courting a cure for fragile X. Neuron. 2005 Mar 3;45(5):642-4. 
- Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician. 2005 Jul 1;72(1):111-3.