About this trial
Bardet-Biedl Syndrome (BBS) is an uncommon genetic disorder that affects multiple organs. and presents with a variety of characteristics. It is caused by a dysfunction in the cilia. We present a case of bradet-biedl syndrome presenting with intellectual disabilities, post-axial polydactyly, gingival hyperplasia, and a significant family history of scleroderma. The diagnosis was determined based on clinical physical examination findings. The patient is undergoing treatment with Thyroxine. Although medical staff are incapable of treatment, systems support adjust the overall well-being and quality of life for individuals with Bardet-Biedl syndrome and their families.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
any person
Disqualifiers
any person
Trial population
any hospital
Trial design
Case-only
Other
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
bardet beidle syndrome
Locations
Sponsors and contacts
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