Thelansis

  Morquio Syndrome, also known as Mucopolysaccharidosis Type IV, is a rare lysosomal storage disease with mild to severe spondylosis-epiphyses-metaphyseal dysplasia. It is characterized by disproportionate short stature with a short neck and trunk, joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities such as kyphosis and scoliosis, respiratory impairment, and valvular heart disease. Clinically, the two forms of MPS, IVA and IVB, have similar skeletal manifestations. But MPS IVA is more severe. MPS IVA is diagnosed during the second year of life. Progressive skeletal and joint deformities lead to impairment in walking and daily activities. Patients experience low endurance, debilitating fatigue, and pain; many become wheelchair-dependent in their second decade. Body-wide accumulation of glycosaminoglycans (GAGs) results in dysfunction and dysplasia. In MPS IVA, deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS, 1

 Morquio Syndrome also known as Mucopolysaccharidosis Type IV is a rare lysosomal storage disease with mild to severe spondylosis-epiphyses-metaphyseal dysplasia. It is characterized by disproportionate short stature with a short neck and trunk, joint laxity, pectus carinatum, genum valgum, abnormal gait, tracheal narrowing, spinal abnormalities such as kyphosis and scoliosis, respiratory impairment, and valvular heart disease. Clinically, the two forms of MPS, IVA and IVB, have similar skeletal manifestations. But MPS IVA is more severe. MPS IVA is diagnosed during the second year of life. Progressive skeletal and joint deformities lead to impairment in walking and daily activities. Patients experience low endurance, debilitating fatigue, and pain; many become wheelchair-dependent in their second decade. Body-wide accumulation of glycosaminoglycans (GAGs) results in dysfunction and dysplasia. In MPS IVA, deficiency of the enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS, 16q24.