Mucopolysaccharidosis Type VI
Are there one or two characteristic "odd" or "unusual" symptoms or clinical features of Mucopolysaccharidosis Type VI?
The main finding that would distinguish mucopolysaccharidosis type VI (MPS VI) from other genetic conditions that look similar is the presence of dermatan sulfate in the urine without heparan sulfate. People with MPS VI have unique "coarse" facial features from the build up of glycosaminoglycans (GAGs), which causes a thickening of the nose, lips, and tongue. The buildup of GAGs can also cause clouding of the cornea (the clear outer layer) in the eye. However, many of the other symptoms of MPS VI can also be found in conditions within the same family, that is, other types of mucopolysaccharidoses. It is important to note that while some types of mucopolysaccharidoses cause intellectual disability, people with MPS VI usually have normal intelligence.
Genetics Home Reference - https://ghr.nlm.nih.gov/condition/mucopolysaccharidosis-type-vi