spondylometaphyseal dysplasia, Schmidt type
Findings
No curated finding names spondylometaphyseal dysplasia, Schmidt type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet.
Definition from the Mondo Disease Ontology (MONDO:0008478), read 2026-09-29. CC BY 4.0.
Features
32 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 metaphysis morphologyHPOHP:0000944
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Metaphyseal dysplasiaHPOHP:0100255
- Very frequent (80% to 99% of cases)
- Abnormal ilium morphologyHPOHP:0002867
- Frequent (30% to 79% of cases)
- Abnormality of the epiphysis of the femoral headHPOHP:0010574
- Frequent (30% to 79% of cases)
- Abnormality of the kneeHPOHP:0002815
- Frequent (30% to 79% of cases)
Show the remaining 20
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Severe short statureHPOHP:0003510
- Frequent (30% to 79% of cases)
- Short iliac bonesHPOHP:0100866
- Frequent (30% to 79% of cases)
- Abnormality of the wristHPOHP:0003019
- Occasional (5% to 29% of cases)
- Cleft soft palateHPOHP:0000185
- Occasional (5% to 29% of cases)
- Gastroesophageal refluxHPOHP:0002020
- Occasional (5% to 29% 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.
- COL2A1HGNC:2200
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: spondylometaphyseal dysplasia, Schmidt type
- Also called
- spondylometaphyseal dysplasia Algerian typespondylometaphyseal dysplasia Schmidt typespondylometaphyseal dysplasia with severe genu valgumspondylometaphyseal dysplasia, Algerian type