Schmid metaphyseal chondrodysplasia
Findings
No curated finding names Schmid metaphyseal chondrodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare skeletal disorder caused by a variation in COL10A1 gene and is characterized by moderately short stature with short limbs, coxa vara, bowlegs and an abnormal gait.
Definition from the Mondo Disease Ontology (MONDO:0007983), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
42 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.
- Broad femoral neckHPOHP:0006429
- 7 of 7 reported patients
- Coxa varaHPOHP:0002812
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Enlargement of the proximal femoral epiphysisHPOHP:0003371
- 7 of 7 reported patients
- Femoral bowingHPOHP:0002980
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Metaphyseal irregularityHPOHP:0003025
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Metaphyseal sclerosisHPOHP:0004979
- 1 of 1 reported patient
Show the remaining 30
- Limb undergrowthHPOHP:0009826
- Very frequent (80% to 99% of cases)
- Metaphyseal cuppingHPOHP:0003021
- Very frequent (80% to 99% of cases)
- Thick growth platesHPOHP:0025369
- Very frequent (80% to 99% of cases)
- Genu varumHPOHP:0002970
- 5 of 7 reported patients
- Frequent (30% to 79% of cases)
- Abnormal hand metaphysis morphologyHPOHP:0005923
- Frequent (30% to 79% of cases)
- Anterior rib cuppingHPOHP:0000907
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.
- COL10A1HGNC:2185
- Definitive · Ambry Genetics · Autosomal dominant · 2019
- Definitive · ClinGen · Autosomal dominant · 2024
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: Schmid metaphyseal chondrodysplasia
- Also called
- MCDSmetaphyseal chondrodysplasia Schmid typeMetaphyseal Chondrodysplasia, Schmid Typespondylometaphyseal dysplasia, Japanese type