spondyloepiphyseal dysplasia tarda, X-linked
Findings
No curated finding names spondyloepiphyseal dysplasia tarda, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked spondyloepiphyseal dysplasia tarda is an inherited skeletal disorder that affects males only. Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck;disproportionatelylong arms,and premature osteoarthritis, especially in the hip joints. Final male adult height ranges from 4 feet 10 inches to 5 feet 6 inches. Other skeletal features of this condition include decreased mobility of the elbow and hip joints, arthritis, and abnormalities of the hip joint which causes the upper leg bones to turn inward. This condition is caused by mutations in the TRAPPC2 gene and is inherited in an X-linked recessive pattern.
Definition from the Mondo Disease Ontology (MONDO:0010737), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
6 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.
- Back painHPOHP:0003418
- 2 of 2 reported patients · Juvenile onset
- Barrel-shaped chestHPOHP:0001552
- 2 of 2 reported patients
- Hump-shaped mound of bone in central and posterior portions of vertebral endplateHPOHP:0004594
- 2 of 2 reported patients
- PlatyspondylyHPOHP:0000926
- 2 of 2 reported patients
- Postnatal growth retardationHPOHP:0008897
- 2 of 2 reported patients · Juvenile onset
- Short femoral neck
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.
- TRAPPC2HGNC:23068
- Definitive · G2P · X-linked · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
1 name
Resolves to: spondyloepiphyseal dysplasia tarda, X-linked
- Also called
- spondyloepiphyseal dysplasia tarda, X-linked recessive