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Bruck syndrome is characterized by the association of osteogenesis imperfecta and congenital joint contractures.
Features include very common findings: Weak and brittle bones (osteoporosis), Joint stiffness, Wormian bones, and Recurrent fractures and others; and common findings: Triangular face, Pterygium, Talipes equinovarus, and Difficulty breathing (respiratory insufficiency) and others. 14 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 7 | Weak and brittle bones (osteoporosis), Joint stiffness, Wormian bones |
Phenotype severity distribution: 6 very common features, 6 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Bruck syndrome.
14 publications have been identified in PubMed for Bruck syndrome. Research spans Case Report / Case Series (50%), Basic Science / Preclinical (36%), and Review / Meta-Analysis (7%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 7 | 50% |
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 3:41 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about Bruck syndrome
Head and neck | 1 | Triangular face |
Lungs and breathing | 1 | Difficulty breathing (respiratory insufficiency) |
Muscles | 1 | Joint stiffness present at birth (arthrogryposis multiplex congenita) |
Growth and development | 1 | Short stature |
Age of onset: at birth.
5 |
36% |
Research summaries | 1 | 7% |
New treatment approaches | 1 | 7% |
Patra S (2026). [PMID: 42147077](https://pubmed.ncbi.nlm.nih.gov/42147077/). *JCEM Case Rep*. [Case Report / Case Series]
Sriudomporn K (2026). [PMID: 41699528](https://pubmed.ncbi.nlm.nih.gov/41699528/). *BMC Pregnancy Childbirth*. [Review / Meta-Analysis]
Merkuryeva ES (2026). [PMID: 42195013](https://pubmed.ncbi.nlm.nih.gov/42195013/). *Genes (Basel)*. [Case Report / Case Series]
Tomiku S (2025). [PMID: 40486493](https://pubmed.ncbi.nlm.nih.gov/40486493/). *Biochem Biophys Rep*. [Gene Therapy / Novel Therapeutics]
Punnaniti K (2025). [PMID: 39893961](https://pubmed.ncbi.nlm.nih.gov/39893961/). *Int J Surg Case Rep*. [Case Report / Case Series]
Vural Topaktaş G (2025). [PMID: 41243835](https://pubmed.ncbi.nlm.nih.gov/41243835/). *J Clin Res Pediatr Endocrinol*. [Basic Science / Preclinical]
Kot A (2024). [PMID: 39088537](https://pubmed.ncbi.nlm.nih.gov/39088537/). *J Bone Miner Res*. [Basic Science / Preclinical]
Yelkur P (2024). [PMID: 38983978](https://pubmed.ncbi.nlm.nih.gov/38983978/). *Cureus*. [Case Report / Case Series]
Manohar S (2024). [PMID: 39256175](https://pubmed.ncbi.nlm.nih.gov/39256175/). *BMJ Case Rep*. [Case Report / Case Series]
Merkuryeva ES (2024). [PMID: 38927610](https://pubmed.ncbi.nlm.nih.gov/38927610/). *Genes (Basel)*. [Case Report / Case Series]
AI-curated news mentioning Bruck syndrome
Updated Aug 25, 2026
A study from two centers in the UAE explores the phenotypic spectrum and quality of life in pediatric patients with Bruck syndrome linked to FKBP10 and PLOD2 gene variants. This research contributes to understanding the clinical presentation and patient experiences associated with this rare condition.