Don’t fight Bardet-Biedl syndrome 1 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
BBS has an autosomal recessive pattern of inheritance. This means that to have the syndrome, a person must have a mutation in both copies of the responsible gene in each cell. People with BBS inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
Some cases of BBS (fewer than 10%) appear to require the presence of at least three mutations for a person to have features of the condition. This is known as triallelic inheritance. In these cases, in addition to inheriting a mutation in the same gene from each parent, a child also needs to have at least one more mutation in another gene to be affected.
Last updated on 05-01-20
Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!