Conditions / Genetic
mucopolysaccharidosis IVA
info · Genetic · ICD-10: E76.210
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heteroz
A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3.
Signs and symptoms
- Lumbar kyphosis
- Genu valgum
- Bronchoconstriction
- Disproportionate short-trunk short stature
- Pectus carinatum
- Motor delay
- Anterior beaking of lumbar vertebrae
- Waddling gait
- Recurrent pneumonia
- Scoliosis
Medications that may treat it
Also known as: GALNS deficiency; MPS IVA; MPS4A; Morquio A disease; Morquio syndrome A