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

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.

Not Yet Recruiting

Trial opening soon.

Get Notified

Key information

Conditions

Bardet Biedl Syndrome (BBS) Abnormalities, Multiple Bardet-Biedl Syndrome Body Weight Brain Diseases Central Nervous System Diseases Ciliopathies Congenital Abnormalities Congenital, Hereditary, and Neonatal Diseases and Abnormalities Eye Diseases Eye Diseases, Hereditary Genetic Diseases, Inborn Hypothalamic Diseases Nervous System Diseases Nutrition Disorders Nutritional and Metabolic Diseases Obesity Obesity, Abdominal Overnutrition Overweight Pathological Conditions, Signs and Symptoms Polydactyly, Postaxial Retinitis Pigmentosa Signs and Symptoms

Sex eligibility

All sexes

Study type

Observational

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

any person

Exclusion criteria

any person

Treatment and study plan

Primary outcomes

bardet beidle syndrome

Time frame: 2025

Study contacts

Contact information is provided by the study sponsor or research team.

shaghaf mwaffak alhallak, med student

CONTACT

[email protected]

0988249648

Sponsors and collaborators

Lead sponsor

Al Baath University

Other

Registry information

Acronym: AlBaathU

Important dates

Study start: 2024
Primary completion: 2025
Study completion: 2025
First posted: Sep 26, 2024
Registry last updated: Sep 27, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting