Smith–Fineman–Myers syndrome
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Smith–Fineman–Myers syndrome | |
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Other names | X-linked mental retardation-hypotonic facies syndrome 1 (MRXHF1), Carpenter–Waziri syndrome, Chudley–Lowry syndrome, SFMS, Holmes–Gang syndrome and Juberg–Marsidi syndrome (JMS), X-linked recessive pattern of inheritance. |
Smith–Fineman–Myers syndrome (SFMS1) is a
Signs and symptoms
SFMS affects the skeletal and nervous system. This syndrome's external signs would be an unusual facial appearance with their heads being slightly smaller than average, a
Males who have SFMS have short stature and a thin body build. The skin is lightly pigmented with multiple freckles. They may have scoliosis and chest abnormalities.
Affected boys have reduced muscle tone as infants-young children. X-rays sometimes show that their bones are underdeveloped and show characteristics of the bones of younger children. Boys under the age of 10 usually have reduced muscle tone but later, patients with SFMS over the age of 10 have increased muscle tone and reflexes that cause spasticity. Their hands are short with unusual palm creases with short, shaped fingers and foot abnormalities, such as are shortened and fused toes.
They have spleen agenesis (absence of the spleen) and the genitals may also show undescended testes ranging from mild to severe that leads to female gender assignment.
People who have SFMS have severe intellectual disability (formerly known as mental retardation). They are restless on occasion, have behavioral problems, seizures and severe delay in language development. They are self-absorbed with reduced ability to socialize with others around them. They also have psychomotor retardation which is the slowing-down of thoughts and a reduction of physical movements. They have cortical atrophy (also known as degeneration) of the brain's outer layer, although it is usually found in older affected people.[4]
Genetics
SFMS is an X-linked disease by
Affected fathers can never pass this X-linked disease to their sons but affected fathers can pass the X-linked gene to their daughters who has a 50% chance to pass this disease-causing gene to each of her children. Since females who
Some patients with SFMS have been founded to have a
Diagnosis
The assessment for Smith-Finemen-Myers syndrome like any other mental retardation includes a detailed family history and physical exam that tests the mentality of the patient. The patient also gets a brain and skeletal imaging though CT scans or x-rays. They also does a chromosome study and certain other genetic biochemical tests to help figure out any other causes for the mental retardation.
The diagnosis of SFMS is based on visible and measurable symptoms. Until 2000, SFMS was not known to be associated with any particular gene. As of 2001, scientists do not yet know if other genes are involved in this rare disease. Generic analysis of the ATRX gene may prove to be helpful in diagnosis of SFMS.[6]
Treatments
Treatments are usually based on the individuals symptoms that are displayed. The seizures are controlled with anticonvulsant medication. For the behavior problems, the doctors prescribe a few medications and behavioral modification routines that involve therapists and other types of therapy. Even if mental retardation is severe, it does not seem to shorten the lifespan of the patient or to get worse with age.
History
On September 15, 1991 in
On September 23, 1998 at the Hospital Injury Research and Rehabilitation at the University of São Paulo in Bauru, Brazil report on two boys,
References
- ^ Online Mendelian Inheritance in Man (OMIM): 309580
- PMID 8503439.
- ^ "Smith-Fineman-Myers syndrome (Richard D. Smith)".
- ^ a b "Health".
- ^ a b Smith-Fineman-Myers Syndrome Summary.
- ^ "Health Content A-Z".
- PMID 1684092.
- PMID 9788563.