Bardet-Biedl syndrome 1

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Disease Overview

Bardet-Biedl syndrome (BBS) is an inherited condition that affects many parts of the body. People with this syndrome have progressive visual impairment due to cone-rod dystrophy; extra fingers or toes (polydactyly); truncal obesity; decreased function of the male gonads (hypogonadism); kidney abnormalities; and learning difficulties.[2016] Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive.[2015][14887] Treatment depends on the symptoms present in each person.


Synonyms

  • BBS1
  • Bardet-Biedl syndrome
  • BBS

For more information, visit GARD.

National Organization for Rare Disorders