Conditions / Genetic
Scheie syndrome
info · Genetic · ICD-10: E76.0
A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan.
Signs and symptoms
- Aortic valve stenosis
- Corneal opacity
- Mitral stenosis
- Spondylolisthesis
- Obstructive sleep apnea
- Pes cavus
- Full cheeks
- Cervical cord compression
- Broad face
- Short neck
Also known as: mucopolysaccharidosis type 1S; mucopolysaccharidosis type IS; mucopolysaccharidosis type V