metaphyseal chondrodysplasia, Spahr type
MONDO:0009597Mondo
Findings
No curated finding names metaphyseal chondrodysplasia, Spahr type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile 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.
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Abnormal metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Bowing of the long bonesHPOHP:0006487
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- Genu varumHPOHP:0002970
- Very frequent (80% to 99% of cases)
- Hip dysplasiaHPOHP:0001385
- Very frequent (80% to 99% of cases)
- HyperlordosisHPOHP:0003307
- Very frequent (80% to 99% of cases)
- Metaphyseal chondrodysplasiaHPOHP:0005871
- Very frequent (80% to 99% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- Very frequent (80% to 99% of cases)
- Progressive leg bowingHPOHP:0006409
- Very frequent (80% to 99% of cases)
Show the remaining 9
- Reduced bone mineral densityHPOHP:0004349
- Very frequent (80% to 99% of cases)
- Short lower limbsHPOHP:0006385
- Very frequent (80% to 99% of cases)
- Knee painHPOHP:0030839
- 2 of 3 reported patients
- Abnormal epiphysis morphologyHPOHP:0005930
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- Carious teethHPOHP:0000670
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MMP13HGNC:7159
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of