spondyloepiphyseal dysplasia tarda
Findings
No curated finding names spondyloepiphyseal dysplasia tarda yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Definition from the Mondo Disease Ontology (MONDO:0019667), read 2026-09-29. CC BY 4.0.
Features
49 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.
- Barrel-shaped chestHPOHP:0001552
- Very frequent (80% to 99% of cases)
- Disproportionate short-trunk short statureHPOHP:0003521
- Very frequent (80% to 99% of cases)
- Enlarged metaphysesHPOHP:0003051
- Very frequent (80% to 99% of cases)
- Failure to thriveHPOHP:0001508
- Very frequent (80% to 99% of cases)
- Hump-shaped mound of bone in central and posterior portions of vertebral endplateHPOHP:0004594
- Very frequent (80% to 99% of cases)
- Increased arm spanHPOHP:0012771
- Very frequent (80% to 99% of cases)
- Multiple epiphyseal dysplasiaHPOHP:0002654
- Very frequent (80% to 99% of cases)
- Multiple skeletal anomaliesHPOHP:0005775
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Premature osteoarthritisHPOHP:0003088
- Very frequent (80% to 99% of cases)
- Abnormal cartilage morphologyHPOHP:0002763
- Frequent (30% to 79% of cases)
- Abnormal epiphyseal ossificationHPOHP:0010656
- Frequent (30% to 79% of cases)
Reported absent (5)
- AutoimmunityHPOHP:0002960
- Cleft palateHPOHP:0000175
- Increased inflammatory responseHPOHP:0012649
- Retinal detachmentHPOHP:0000541
- SynovitisHPOHP:0100769
Show the remaining 37
- Abnormal lumbar spine morphologyHPOHP:0100712
- Frequent (30% to 79% of cases)
- Abnormal shoulder morphologyHPOHP:0003043
- Frequent (30% to 79% of cases)
- Abnormally ossified vertebraeHPOHP:0100569
- Frequent (30% to 79% of cases)
- ArthralgiaHPOHP:0002829
- Frequent (30% to 79% of cases)
- Arthralgia of the hipHPOHP:0003365
- Frequent (30% to 79% of cases)
- Back painHPOHP:0003418
- Frequent (30% to 79% 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.
- TRAPPC2HGNC:23068
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (6)
- spondyloepiphyseal dysplasia tarda with characteristic facies
- spondyloepiphyseal dysplasia tarda, autosomal dominant
- spondyloepiphyseal dysplasia tarda, autosomal recessive
- spondyloepiphyseal dysplasia tarda, autosomal recessive, Leroy-Spranger type
- spondyloepiphyseal dysplasia tarda, Kohn type
- spondyloepiphyseal dysplasia tarda, X-linked