An observational study in Bardet Biedl Syndrome (BBS), sponsored by Al Baath University. Not yet recruiting. Per ClinicalTrials.gov, last updated 2024-09-27.
Sponsored by Al Baath University · Observational
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.
Bardet-Biedl Syndrome (BBS) is a rare genetic disorder that affects multiple organ systems presents with a variety of characteristics . It is caused by a dysfunction in the cilia The disorder is autosomal recessive and has a prevalence rate of 1 per 160000 live births in Europe. The primary manifestations include central obesity, post-axial polydactyly, retinal dystrophy, hypogonadism, learning difficulties, and renal malformations . Secondary manifestations include diabetes, brachydactyly, syndactyly, strabismus, cardiac problems, speech difficulties, and ataxia .The diagnosis of BBS requires the presence of four primary features or three primary features and two secondary features , a new paper suggests that modified criteria for diagnosis can be at a moderate level of confidence if it includes at least 2 primary criteria . In this paper, we describe an adolescent male with a unique presentation of BBS. To the best of our knowledge, this is the first case in Syria described in the literature
9,217 studies on the registry are indexed under Syndrome; 1,031 are open to participants now.
This study's planned enrollment of 100 is close to the median of 102 across 2,209 observational studies indexed under Syndrome.
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bardet beidle syndrome
Time frame: 2025
No study locations are listed for this record.
Plan to share: No
This study is not yet recruiting, as verified in Sep 2024. You cannot join it, but the record below documents what was studied.
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Bardet-Biedl Syndrome