Char syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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: // Data version September 2023.

Newly diagnosed with
Char syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Clinical Trials

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