mucopolysaccharidosis X

A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the AR

A mucopolysaccharidos characterized by childhood-onset disorder associated with disproportionate short-trunk short stature and skeletal, cardiac, and ophthalmologic abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15.

Signs and symptoms

• Coarse facial features
• Spatulate ribs
• Broad clavicle
• Genu valgum
• Disproportionate short-trunk short stature
• Hip dysplasia
• Posterior scalloping of vertebral bodies
• Platyspondyly
• Dermatan sulfate excretion in urine
• Broad ribs

Also known as: MPS10; MSP type X; mucopolysaccharidosis due to ARSK deficiency