Char syndrome

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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 July 2024

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Char syndrome?

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Advocacy Organizations

Project CASK

VISION Project CASK believes in a world free of the life limitations and debilitating effects of CASK gene disorders. ​MISSION To accelerate breakthroughs in research to develop treatments and a cure for CASK gene disorders. ​VALUES Collaboration. Transparency. Urgency.

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Clinical Trials

For a list of clinical trials in this disease area, please click here.