Campomelic dysplasia

Get in touch with RARE Concierge.

Contact RARE Concierge

Campomelic dysplasia

Synonyms: Campomelic dwarfism

A rare skeletal dysplasia characterized by peculiar facial anomalies Pierre Robin sequence cleft palate shortening and bowing of long bones. Sexual ambiguity or female external genitalia is possible in individuals with a male karyotype.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version March 2024

Newly diagnosed with
Campomelic dysplasia?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.