spondyloepiphyseal dysplasia tarda, Kohn type
MONDO:0010073Mondo
Findings
No curated finding names spondyloepiphyseal dysplasia tarda, Kohn type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Spondyloepiphyseal dysplasia tarda, Kohn type is characterized by short trunk dwarfism, progressive involvement of the spine and epiphyses and mild-to-moderate intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0010073), read 2026-09-29. CC BY 4.0.
Features
11 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.
- Abnormal ilium morphologyHPOHP:0002867
- Frequent (30% to 79% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Frequent (30% to 79% of cases)
- Abnormality of the ankleHPOHP:0003028
- Frequent (30% to 79% of cases)
- Abnormality of the kneeHPOHP:0002815
- Frequent (30% to 79% of cases)
- Bilateral coxa valgaHPOHP:0010665
- Frequent (30% to 79% of cases)
- Disproportionate short-trunk short statureHPOHP:0003521
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- Frequent (30% to 79% of cases)
- Restricted large joint movementHPOHP:0005193
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Occasional (5% to 29% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Occasional (5% to 29% of cases)
Where it sits
- A kind of