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

NCT06615011 · Status: NOT_YET_RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2024-09-27

No results posted yet for this study

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.

Conditions

  • Bardet Biedl Syndrome (BBS)

Sponsors & Collaborators

  • Al Baath University

    lead OTHER

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-10-12
Primary Completion
2025-09-12
Completion
2025-10-12

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06615011 on ClinicalTrials.gov