ulna metaphyseal dysplasia syndrome
Findings
No curated finding names ulna metaphyseal dysplasia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
Definition from the Mondo Disease Ontology (MONDO:0008619), read 2026-09-29. CC BY 4.0.
Features
15 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 hip bone morphologyHPOHP:0003272
- Very frequent (80% to 99% of cases)
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormal morphology of ulnaHPOHP:0040071
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the radiusHPOHP:0006501
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Abnormal fibula morphologyHPOHP:0002991
- Frequent (30% to 79% of cases)
Show the remaining 3
- Depressed nasal ridgeHPOHP:0000457
- Occasional (5% to 29% of cases)
- Kidney stoneHPOHP:0000787
- Occasional (5% to 29% of cases)
- MicrodontiaHPOHP:0000691
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: ulna metaphyseal dysplasia syndrome
- Also called
- Rosenberg-Lohr syndrome