Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) (OMIM 253000) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase (GALNS, EC 3.1.6.4) [1,2], which results in the accumulation of glycosaminoglycans (GAGs) such as keratan sulfate (KS) and chondroitin-6-sulfate (C6S) in multiple tissues, primarily bone, cartilage, heart valves, and cornea, leading to devastating systemic skeletal dysplasia with incomplete ossification and consequent growth impairment [3,4]. The gene discussed is GALNS; the disease is skeletal dysplasia.