axial spondylometaphyseal dysplasia
Findings
No curated finding names axial spondylometaphyseal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion.
Definition from the Mondo Disease Ontology (MONDO:0011211), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset · Juvenile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
56 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.
- Optic atrophyHPOHP:0000648
- 7 of 7 reported patients
- Occasional (5% to 29% of cases)
- Reduced sperm motilityHPOHP:0012207
- 2 of 2 reported patients
- RhizomeliaHPOHP:0008905
- 7 of 7 reported patients
- Rod-cone dystrophyHPOHP:0000510
- 20 of 21 reported patients
- Very frequent (80% to 99% of cases)
- Cone/cone-rod dystrophyHPOHP:0000548
- 10 of 11 reported patients · Childhood onset
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.
- CFAP410HGNC:1260
- Definitive · G2P · Autosomal recessive · 2024