dyssegmental dysplasia

Classification

• dyssegmental dysplasia Silverman-Handmaker type; severe, lethal form
• dyssegmental dysplasia Rolland-desbuquois form; milder form

Epidemiology

rare

Pathology

skeletal dysplasia

Genetics

autosomal recessive

Clinical manifestations

• anisospondyly
• micromelia

More general terms

• skeletal dysplasia
• musculoskeletal disease/disorder

More specific terms

• dyssegmental dysplasia Silverman-Handmaker type (DDSH)