Campomelic dysplasia

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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 http://www.orphadata.org. Data version March 2024

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Campomelic dysplasia?

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Clinical Trials

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