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CHARGE syndrome

How is it diagnosed?

Diagnosis has been historically based on fulfilling at least four out of the six diagnostic criteria in the acronym, although other features have also been variably noted.

Some of these abnormalities are more specific to CHARGE and this is now reflected in major and minor diagnostic criteria:

Major: Coloboma, Choanal Atresia, characteristic Ear Anomalies and Cranial Nerve Dysfunction.

Minor: Include the remainder of the original features plus orofacial clefting, tracheo-oesophageal fistulae and a distinctive face.

Individuals with all four major or three major and three minor undoubtedly have CHARGE, which is now considered by many to represent a discrete syndrome.

View What are the symptoms? What are the symptoms?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written December 2000 by Dr J Kirk. Last updated August 2005 by Dr J Kirk, Consultant Endocrinologist, Birmingham Children's Hospital, Birmingham, UK.

 

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