PHAVER syndrome
Synonyms: Powell-Chandra-Saal syndrome
A rare multiple congenital anomalies syndrome characterized by the association of limb pterygia heart anomalies autosomal recessive inheritance vertebral defects ear anomalies and radial defects.
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 2024
Newly diagnosed with
PHAVER syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.