ARSB deficiency

The lysosomal accumulation of glycosaminoglycans is responsible for the widespread signs and symptoms found in this disease.  Bone destruction in shoulders, hips and skull is often seen by the second decade of life and may become evident later in the knees and spine.  Early growth may be normal but eventually slows resulting in short stature.  Dysplasia of bones comprising these joints leads to stiffness and restricted movement.  The face is dysmorphic with coarse features.  Bone dysplasia and facial dysmorphism may be seen at birth.  Myelopathy and even tetraplegia can result from vertebral compression.  Intelligence is often normal although more severely affected individuals may have some cognitive defects.  Hepatosplenomegaly is common and compromised respiratory function can result in reduced physical stamina.  The tongue is usually enlarged.  Accumulation of dermatan sulfate in heart valves may produce insufficiency or restriction of outflow.