Don’t fight Bardet-Biedl syndrome alone.
Find your community on the free RareGuru App.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. Mutations in many genes are known to cause Bardet-Biedl syndrome and inheritance is usually autosomal recessive. Treatment depends on the symptoms present in each person.
Source: GARD Last updated on 05-01-20
Bardet-Biedl syndrome (BBS) affects many parts of the body. Signs and symptoms can vary among affected individuals, even within the same family. The major features include:
BBS may also be associated with other features, including:
Last updated on 05-01-20
Managing the behavior problems of Bardet-Biedl syndrome depends on which issues are present in each person. Children with this syndrome should have a developmental assessment or educational evaluation to develop a personalized plan. Early intervention is important so that children reach their highest potential.
Last updated on 05-01-20
Most affected males produce reduced amounts of sex hormones and are unable to father biological children. However, at least two men with Bardet-Biedl syndrome are known to have fathered children.
Last updated on 05-01-20
Behavioral problems have been reported in some people with Bardet-Biedl syndrome (BBS). The types of problems vary for each person but may include:
Some children have features of autism, but they usually do not meet the criteria for diagnosis.
Last updated on 05-01-20
There is no cure for Bardet-Biedl syndrome. Treatment generally focuses on the specific signs and symptoms in each individual:
Last updated on 05-01-20
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