Bardet Beidle Syndrome in a Syrian Adolescent : a Rare Case Report (AlBaathU)
September 25, 2024 updated by: Shaghaf Alhallak, Al Baath University
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.
Study Overview
Status
Not yet recruiting
Conditions
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
Study Type
Observational
Enrollment (Estimated)
100
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Contact
- Name: shaghaf mwaffak alhallak, med student
- Phone Number: 0988249648
- Email: shaghafalhallak@gmail.com
Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
- Child
- Adult
- Older Adult
Accepts Healthy Volunteers
No
Sampling Method
Probability Sample
Study Population
any hospital
Description
Inclusion Criteria:
- any person
Exclusion Criteria:
- any person
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
What is the study measuring?
Primary Outcome Measures
Outcome Measure |
Time Frame |
|---|---|
|
bardet beidle syndrome
Time Frame: 2025
|
2025
|
Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Sponsor
Publications and helpful links
The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.
General Publications
- Ankleshwaria C, Prajapati B, Parmar S, Rathod V, Patel H, Dhorajiya D, Chavda N, Parmar K, Pathan F, Chauhan M. Bardet-Biedl Syndrome Presenting in Adulthood. Indian J Nephrol. 2022 Nov-Dec;32(6):633-636. doi: 10.4103/ijn.ijn_320_21. Epub 2022 Oct 2.
- Oliaei F, Narimani H. Bardet-Biedl 9 Syndrome, A Rare Mutation. Iran J Kidney Dis. 2020 Mar;14(2):157-159.
- Elawad OAMA, Dafallah MA, Ahmed MMM, Albashir AAD, Abdalla SMA, Yousif HHM, Daw Elbait AAE, Mohammed ME, Ali HIH, Ahmed MMM, Mohammed NFN, Osman FHM, Mohammed MAY, Abu Shama EAE. Bardet-Biedl syndrome: a case series. J Med Case Rep. 2022 Apr 29;16(1):169. doi: 10.1186/s13256-022-03396-6.
- Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations. Eur J Hum Genet. 2024 Jul 31. doi: 10.1038/s41431-024-01634-7. Online ahead of print.
- Tsegaw A, Teshome T. Bardet-Biedl Syndrome in an Ethiopian. Int Med Case Rep J. 2021 Mar 19;14:177-181. doi: 10.2147/IMCRJ.S299421. eCollection 2021.
- Shrinkhal, Singh A, Agrawal A, Mittal SK, Udenia H, Bandu GH. A rare case of Bardet-Biedl syndrome. Taiwan J Ophthalmol. 2019 Oct 17;10(2):138-140. doi: 10.4103/tjo.tjo_62_19. eCollection 2020 Apr-Jun.
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Estimated)
October 12, 2024
Primary Completion (Estimated)
September 12, 2025
Study Completion (Estimated)
October 12, 2025
Study Registration Dates
First Submitted
September 24, 2024
First Submitted That Met QC Criteria
September 24, 2024
First Posted (Actual)
September 26, 2024
Study Record Updates
Last Update Posted (Actual)
September 27, 2024
Last Update Submitted That Met QC Criteria
September 25, 2024
Last Verified
September 1, 2024
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
- Pathologic Processes
- Brain Diseases
- Central Nervous System Diseases
- Nervous System Diseases
- Eye Diseases
- Disease
- Congenital Abnormalities
- Genetic Diseases, Inborn
- Hypothalamic Diseases
- Eye Diseases, Hereditary
- Abnormalities, Multiple
- Ciliopathies
- Retinitis Pigmentosa
- Syndrome
- Bardet-Biedl Syndrome
- Laurence-Moon Syndrome
Other Study ID Numbers
- BBS syndrome
Plan for Individual participant data (IPD)
Plan to Share Individual Participant Data (IPD)?
NO
Drug and device information, study documents
Studies a U.S. FDA-regulated drug product
No
Studies a U.S. FDA-regulated device product
No
product manufactured in and exported from the U.S.
No
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.