Campomelic Dysplasia

What does the name mean?

The term ‘campomelic’ or ‘camptomelic’ is of Greek origin and literally means ‘bent limb.’

How common is campomelic dysplasia?

Campomelic dysplasia is one of the more rare forms of congenital short-limb dwarfism. Its incidence is approximately 1 in 111,000 to 1 in 200,000 live births (2).

Is campomelic dysplasia inherited?

Campomelic dysplasia is typically inherited in a sporadic, autosomal dominant manner (3).

What causes campomelic dysplasia?

Campomelic dysplasia is caused by a mutation in the SOX-9 gene, localized to chromosome 17. The SOX-9 gene encodes for a transcription factor that is responsible for normal cartilage development and sexual development.

• What are the physical characteristics of Campomelic Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References