Synonyms: Bowen syndrome, Hutterite type
A rare developmental defect during embryogenesis characterized by moderate to severe prenatal and postnatal growth retardation microcephaly a distinctive facial appearance profound psychomotor delay hip and knee contractures and rockerbottom feet.
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 April 2026
Newly diagnosed with
Bowen-Conradi syndrome?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.