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What is Bardet-Biedl Syndrome
Bardet-Biedl Syndrome description. Find out what Bardet-Biedl Syndrome is and know more about it.
This disorder is characterized by a combination of clinical signs: obesity, pigmentary retinopathy, post-axial polydactyly, polycystic kidneys, hypogenitalism, and learning disabilities, many of which appear several years after disease onset. Clinical expression is variable but most patients manifest the majority of clinical signs during the disease course. Pigmentary retinopathy is the only constant clinical sign after childhood. BBS may also be associated with several other manifestations including diabetes, hypertension, congenital cardiopathy and Hirschsprung disease (see this term).
Posted Jun 16, 2019 by Bardet-Biedl Netherlands (Bendert & Nienke) 3150
