Char syndrome
Synonyms: Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the triad of patent ductus arteriosus (PDA) facial dysmorphism (wide-set eyes downslanting palpebral fissures mild ptosis flat midface flat nasal bridge and upturned nasal tip short philtrum with a triangular mouth and thickened everted lips) and hand anomalies (aplasia or hypoplasia of the middle phalanges of the fifth fingers).
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
Char syndrome?
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Advocacy Organizations
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Clinical Trials
For a list of clinical trials in this disease area, please click here.