Based on the reference provided, it seems there might be a slight misunderstanding in the question. The reference speaks of Scheie syndrome, not Shay syndrome. It's possible the question contains a typographical error. Therefore, I will answer what Scheie syndrome is.
Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease.
Understanding Scheie Syndrome
Here's a breakdown of Scheie Syndrome based on the provided reference:
- Definition: Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1).
- Nature: It's a rare lysosomal storage disease.
- Characteristics: It is characterized by skeletal deformities and a delay in motor development.
Feature | Description |
---|---|
Type of Disease | Lysosomal Storage Disease |
Severity | Mildest form of MPS1 |
Key Symptoms | Skeletal deformities and delay in motor development |