Catalog

Bardet-Biedl syndrome

No MMS code

Link to WHO Definition

Bardet-Biedl syndrome – http://id.who.int/icd/entity/255526264

Bardet-Biedl syndrome is a ciliopathy with multisystem involvement that is characterised 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.