Bruck syndrome 1
MONDO:0009806Mondo
Findings
No curated finding names Bruck syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Bruck syndrome in which the cause of the disease is a mutation in the FKBP10 gene.
Definition from the Mondo Disease Ontology (MONDO:0009806), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
8 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ankle flexion contractureHPOHP:0006466
- 2 of 2 reported patients · Congenital onset
- Elbow flexion contractureHPOHP:0002987
- 2 of 2 reported patients · Congenital onset
- Increased susceptibility to fracturesHPOHP:0002659
- 2 of 2 reported patients
- Knee flexion contractureHPOHP:0006380
- 2 of 2 reported patients · Congenital onset
- OsteoporosisHPOHP:0000939
- 2 of 2 reported patients
- Abnormal sclera morphologyHPOHP:0000591
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FKBP10HGNC:18169
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
4 names
Resolves to: Bruck syndrome 1
- Also called
- arthrogryposis-like disorderBruck syndrome caused by mutation in FKBP10Bruck syndrome type 1FKBP10 Bruck syndrome