spondyloepimetaphyseal dysplasia, Handigodu type
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Handigodu type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging.
Definition from the Mondo Disease Ontology (MONDO:0013233), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Arthralgia of the hipHPOHP:0003365
- Very frequent (80% to 99% of cases)
- Hip osteoarthritisHPOHP:0008843
- Very frequent (80% to 99% of cases)
- Limited hip movementHPOHP:0008800
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Frequent (30% to 79% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Frequent (30% to 79% of cases)
- Difficulty runningHPOHP:0009046
- Frequent (30% to 79% of cases)
Show the remaining 17
- Lumbar hyperlordosisHPOHP:0002938
- Frequent (30% to 79% of cases)
- PlatyspondylyHPOHP:0000926
- Frequent (30% to 79% of cases)
- Protrusio acetabuliHPOHP:0003179
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Abnormal intervertebral disk morphologyHPOHP:0005108
- Occasional (5% to 29% of cases)
- Abnormality of the handHPOHP:0001155
- Occasional (5% to 29% of cases)
Where it sits
- A kind of