hurler syndrome
Hurler syndrome, also known as mucopolysaccharidosis type I (MPS I), is a rare genetic disorder belonging to a group of diseases known as mucopolysaccharidoses (MPS). It is an inherited condition characterized by the deficiency of a specific enzyme called alpha-L-iduronidase, which leads to the accumulation of certain complex carbohydrates (mucopolysaccharides or glycosaminoglycans) within cells and tissues. This accumulation results in various physical and developmental abnormalities. Here's an overview of Hurler syndrome: ** Key Features :** 1. ** Physical Characteristics :** Children with Hurler syndrome typically have distinctive facial features, including a flattened nasal bridge, wide-spaced teeth, thick lips, and enlarged tongue. 2. ** Skeletal Abnormalities: ** Skeletal abnormalities can include enlarged liver and spleen (hepatosplenomegaly), deformities of the spine, and joint stiffness. 3. ** Developmental Delay :** Children with Hurler syndrome often experien