Kniest dysplasia
Findings
No curated finding names Kniest dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones.
Definition from the Mondo Disease Ontology (MONDO:0007987), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
58 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 cartilage collagenHPOHP:0008271
- Obligate (100% of cases)
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Coronal cleft vertebraeHPOHP:0003417
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Dumbbell-shaped femurHPOHP:0006375
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Genu varumHPOHP:0002970
- 1 of 1 reported patient
- Malar flatteningHPOHP:0000272
- 1 of 1 reported patient
Show the remaining 46
- Abnormal joint morphologyHPOHP:0001367
- Very frequent (80% to 99% of cases)
- Bell-shaped thoraxHPOHP:0001591
- Very frequent (80% to 99% of cases)
- Degenerative vitreoretinopathyHPOHP:0007964
- Very frequent (80% to 99% of cases)
- Delayed epiphyseal ossificationHPOHP:0002663
- Very frequent (80% to 99% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
- Disproportionate short statureHPOHP:0003498
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
- Definitive · ClinGen · Autosomal dominant · 2021
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021