Mental retardation Smith Fineman Myers type
Overview
Smith-Fineman-Myers syndrome (SFMS) is a rare and severe type of X-linked inherited mental retardation.
Symptoms
SFMS visibly affects the skeletal and nervous systems and results in an unusual facial appearance. The genitals may also show effects ranging from mild (e.g. undescended testes) to severe (leading to female gender assignment).
Diagnosis
Assessment for any type of mental retardation should include a detailed family history and thorough physical exam. Brain and skeletal imaging through CT scans or x rays may be helpful. A chromosome study and certain other genetic and biochemical tests help to rule out other possible causes of mental retardation. Diagnosis of SFMS has traditionally been based on the visible and measurable symptoms of the disease. Until 2000, SFMS was not known to be associated with any particular gene. As of 2001, scientists do not yet know if other genes may be involved in some cases of this rare disease. Genetic analysis of the ATRX gene may, however, prove to be helpful in diagnosis of SFMS.
Prognosis
Retardation is severe, but it does not seem to get worse with age. Lifespan does not appear to be shortened.
Treatment
Treatment for SFMS is based on the symptoms each individual displays. Seizures are controlled with anticonvulsants. Medications and behavioral modification routines may help to control behavioral problems.