metaphyseal dysplasia, Braun-Tinschert type
MONDO:0011620Mondo
Findings
No curated finding names metaphyseal dysplasia, Braun-Tinschert type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Metaphyseal dysplasia, Braun-Tinschert type is characterized by metapyhseal undermodeling with broadening of the long bones and femora with an 'Erlenmeyer flask'' appearance, expansion and bowing of the radii with severe varus deformity and flat exostoses of the long bones at the metadiaphyseal junctions.
Definition from the Mondo Disease Ontology (MONDO:0011620), read 2026-09-29. CC BY 4.0.
Features
31 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.
- Advanced pneumatization of cranial sinusesHPOHP:0010540
- Frequent (30% to 79% of cases)
- Bipartite patellaHPOHP:0010498
- Frequent (30% to 79% of cases)
- Broad femoral headHPOHP:0008804
- Frequent (30% to 79% of cases)
- Broad femoral neckHPOHP:0006429
- Frequent (30% to 79% of cases)
- Broad long bonesHPOHP:0005622
- Frequent (30% to 79% of cases)
- Broad radial metaphysisHPOHP:0004026
- Frequent (30% to 79% of cases)
- Broad tibial metaphysesHPO
Show the remaining 19
- Fibular bowingHPOHP:0010502
- Frequent (30% to 79% of cases)
- Flared femoral metaphysisHPOHP:0002834
- Frequent (30% to 79% of cases)
- Humerus varusHPOHP:0003874
- Frequent (30% to 79% of cases)
- Hypoplasia of the ulnaHPOHP:0003022
- Frequent (30% to 79% of cases)
- Increased bone mineral densityHPO · MondoHP:0011001
- Frequent (30% to 79% of cases)
- Increased urinary type 1 collagen N-terminal telopeptide levelHPOHP:0032208
- Frequent (30% to 79% of cases)
Where it sits
- A kind of