Morquio syndrome
Morquio syndrome is a rare genetic disorder caused by the deficiency of specific enzymes needed to break down certain sugars in the body. This leads to the accumulation of glycosaminoglycans, which can cause various health issues, particularly affecting the skeleton and connective tissues. Symptoms often include short stature, skeletal abnormalities, and joint problems.
The condition is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene, one from each parent, to develop the syndrome. Early diagnosis and management can help improve quality of life, but there is currently no cure for Morquio syndrome.