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Any Bruck syndrome in which the cause of the disease is a mutation in the PLOD2 gene.
Features include always present findings: Cervical C6/C7 vertebrae fusion. 16 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Bones and joints | 5 | Femoral bowing, Cervical C6/C7 vertebrae fusion, Mild bone density loss (osteopenia) |
PLOD2 function has not been fully characterized.
Bruck syndrome 2 is associated with mutations in the PLOD2 gene on chromosome 3.
Genetic testing for PLOD2 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 1 always present feature.
No clinical trials have been registered for Bruck syndrome 2.
9 publications have been identified in PubMed for Bruck syndrome 2. Research spans Basic Science / Preclinical (56%) and Case Report / Case Series (44%).
Merkuryeva ES (2026). [PMID: 42195013](https://pubmed.ncbi.nlm.nih.gov/42195013/). *Genes (Basel)*. [Case Report / Case Series]
Patra S (2026). [PMID: 42147077](https://pubmed.ncbi.nlm.nih.gov/42147077/). *JCEM Case Rep*. [Case Report / Case Series]
Tomiku S (2025). [PMID: 40486493](https://pubmed.ncbi.nlm.nih.gov/40486493/). *Biochem Biophys Rep*. [Basic Science / Preclinical]
Yelkur P (2024). [PMID: 38983978](https://pubmed.ncbi.nlm.nih.gov/38983978/). *Cureus*. [Case Report / Case Series]
Bolshakova OI (2024). [PMID: 39769143](https://pubmed.ncbi.nlm.nih.gov/39769143/). *Int J Mol Sci*. [Basic Science / Preclinical]
Tsuneizumi K (2024). [PMID: 39156722](https://pubmed.ncbi.nlm.nih.gov/39156722/). *Biochem Biophys Rep*. [Basic Science / Preclinical]
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC
Online Mendelian Inheritance in Man
Genetic and Rare Diseases Info Center
Common questions about Bruck syndrome 2
3 |
Flexion contracture, Knee flexion contracture, Elbow flexion contracture |
Growth and development | 1 | Short stature |
Age of onset: at birth.
Kot A (2024). [PMID: 39088537](https://pubmed.ncbi.nlm.nih.gov/39088537/). *J Bone Miner Res*. [Basic Science / Preclinical]
Jarayseh T (2024). [PMID: 39566080](https://pubmed.ncbi.nlm.nih.gov/39566080/). *J Bone Miner Res*. [Basic Science / Preclinical]
Manohar S (2024). [PMID: 39256175](https://pubmed.ncbi.nlm.nih.gov/39256175/). *BMJ Case Rep*. [Case Report / Case Series]
AI-curated news mentioning Bruck syndrome 2
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.