Definition:
Fitzsimmons-Guilbert syndrome is considered as an extremely rare genetic disease that is characterized by a considerably slow progressive spastic paraplegia, along with skeletal anomalies of the feet and hand with brachydactyly type E. This also comes with cone-shaped epiphyses, sternal anomaly, abnormal metaphyseal–phalangeal pattern profile, mild intellectual deficit and dysarthria. To date, there are only three reported cases of this disease, two of which suffered from severe mental retardation.
Diagnosis:
The diagnosis for Fitzsimmons-Guilbert syndrome is usually based on the symptoms that are manifested by the patient. Subsequent lab tests needs to be done to eliminate the possibility of other medical complications that share some of the symptoms.
Treatment:
There are no available treatments to offer cure for this disorder mainly because of limited number of cases to study and scarce studies relating to the medical condition have been conducted.
Symptoms and Signs:
Symptoms of Fitzsimmons-Guilbert syndrome include short fingers and toes, foot and hand abnormalities, paraplegia, reduced intelligence, retarded growth, walking difficulty, muscle weakness, webbed fingers, short stature and protruding chest.
Causes:
Since this is an extremely rare case, with only three reported incidence, there are currently no established basic pathophysiologiocal mechanisms or any genetic abnormalities for the underlying cause of Fitzsimmons-Guilbert syndrome.
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fitzsimmonsguilbertsyndrome
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