NCT06615011

Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report

• Status: Not Yet Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 100 (estimated)
• Sponsor: Al Baath University · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

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

Conditions

• Bardet Biedl Syndrome (BBS)

Timeline

• Start date: 2024-10-12
• Primary completion: 2025-09-12
• Completion: 2025-10-12
• First posted: 2024-09-26
• Last updated: 2024-09-27