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NOT YET RECRUITING
NCT06615011

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

Sponsor: Al Baath University

View on ClinicalTrials.gov

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.

Key Details

Gender

All

Age Range

Any - Any

Study Type

OBSERVATIONAL

Enrollment

100

Start Date

2024-10-12

Completion Date

2025-10-12

Last Updated

2024-09-27

Healthy Volunteers

No