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Endocrinology

Shpaypa syndrome

Shpaypa syndrome (Schpeipe syndrome; synonym: mucopolysaccharidosis V — mukopolisakharidoz type V) — a kind of hereditary mukopolisakharidoz, a cellular megachromasie. Autosomal and recessive inheritance.
The first symptoms of an illness are shown only at mature age. The dysplasia of the person, low or dwarfish growth, H-shaped legs expressed to anomaly of brushes and feet, rigidity, an atrophy of interosseous muscles with hyperextension, sometimes a syndrome of a carpal tunnel are observed. Umbilical and inguinal hernias. Opacification of a cornea (mainly on the periphery), a pigmental retinitis, is more rare aortal defect or coarctations of an aorta. The intelligence is normal. Genetic defect consists in deficit and - and L-iduronidazy as a result of which in connecting fabric mucopolysaccharides collect. With urine in the increased quantity it is allocated dermatansulfat.
Treatment of effect does not give because of a complex of heavy functional frustration.

 
"Sheye syndrome