autosomal dominant brachyolmia
Findings
No curated finding names autosomal dominant brachyolmia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood.
Definition from the Mondo Disease Ontology (MONDO:0007232), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Childhood-onset short-trunk short statureHPOHP:0008922
- 10 of 10 reported patients
- PlatyspondylyHPOHP:0000926
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Increased vertebral heightHPOHP:0004570
- Very frequent (80% to 99% of cases)
- KyphoscoliosisHPOHP:0002751
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- Very frequent (80% to 99% of cases)
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.
- TRPV4HGNC:18083
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: autosomal dominant brachyolmia
- Also called
- brachyolmia type 3brachyolmia, autosomal dominant