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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
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