RP Cure Tracker

Trials / NCT06615011

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

Status unknown Observational Natural history / observational

Sponsor
Al Baath University
Treatment
Not listed
Gene
Not stated
Conditions
Bardet Biedl Syndrome (BBS)
Ages
Any to no upper limit
Enrollment
100 participants
Started
2024-10-12
Main results expected
2025-09-12
Results posted
Not yet
Record last updated
2024-09-27

What the study is testing

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.

Where it runs

No sites listed yet.

Open on ClinicalTrials.gov for contacts and eligibility