spondyloepimetaphyseal dysplasia, Li-Shao-Li type
MONDO:0976230Mondo
Findings
No curated finding names spondyloepimetaphyseal dysplasia, Li-Shao-Li type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
21 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 vertebral epiphysis morphologyHPOHP:0100734
- 1 of 1 reported patient
- Biconcave vertebral bodiesHPOHP:0004586
- 2 of 2 reported patients
- Broad femoral neckHPOHP:0006429
- 2 of 2 reported patients
- HyperostosisHPOHP:0100774
- 2 of 2 reported patients
- Irregular vertebral endplatesHPOHP:0003301
- 2 of 2 reported patients
- Narrow iliac wingHPOHP:0002868
- 1 of 1 reported patient
- Sclerotic vertebral endplatesHPOHP:0004576
- 2 of 2 reported patients
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Short femoral neckHPOHP:0100864
- 2 of 2 reported patients
- Waddling gaitHPOHP:0002515
- 14 of 14 reported patients
- ArthralgiaHPOHP:0002829
- 12 of 14 reported patients
- Joint swellingHPOHP:0001386
- 12 of 14 reported patients
Show the remaining 9
- Limitation of joint mobilityHPOHP:0001376
- 9 of 11 reported patients
- PlatyspondylyHPOHP:0000926
- 7 of 9 reported patients
- Reduced bone mineral densityHPOHP:0004349
- 6 of 8 reported patients
- Short statureHPOHP:0004322
- 8 of 14 reported patients
- Genu varumHPOHP:0002970
- 3 of 13 reported patients
- KyphosisHPOHP:0002808
- 2 of 13 reported patients
Where it sits
- A kind of