Dyssegmental Dysplasia

From Anvita Health Wiki

Contents 1 More Specific Terms 2 Classification 3 Epidemiology 4 Pathology 5 Genetics 6 Clinical-manifestations 7 More General Terms 8 References

More Specific Terms

• dyssegmental dysplasia Silverman-Handmaker type (DDSH)

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

• genetic disease of bone/skeletal system
• dysplasia
• musculoskeletal disease/disorder

References

UniProt [1]

dyssegmental dysplasia