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Start free with EleplanKniest dysplasia
ORPHA:485Disease
What it is
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. It was first described in 1952 by Dr Wilhelm Kniest, a German pediatrician.
Key facts
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
15- Abnormal bone structure
- Abnormal joint morphology
- Bell-shaped thorax
- Degenerative vitreoretinopathy
- Delayed epiphyseal ossification
- Depressed nasal bridge
- Disproportionate short stature
- Enlarged joints
- Flexion contracture of finger
- High myopia
- Joint stiffness
- Keratan sulfate excretion in urine
- Proptosis
- Round face
- Vitreoretinopathy
Common30–79%
19- Abnormality of the epiphysis of the femoral head
- Aplasia/hypoplasia of the extremities
- Aplasia/Hypoplasia of the lens
- Arthropathy
- Cervical spine instability
- Cleft palate
- Disproportionate short-trunk short stature
- Dumbbell-shaped long bone
- Enlarged epiphyses
- Enlarged metaphyses
- Hearing impairment
- Hypoplasia of the odontoid process
- Lattice retinal degeneration
- Metaphyseal widening
- Platyspondyly
- Retinal detachment
- Rhegmatogenous retinal detachment
- Short long bone
- Short thorax
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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