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Start free with EleplanCHST3-related skeletal dysplasia
ORPHA:263463Disease
Also called Chondrodysplasia with congenital joint dislocations, CHST3 type · SDCD, CHST3 type · Spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type
What it is
CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
18- Abnormal form of the vertebral bodies
- Abnormality of the elbow
- Arthralgia
- Barrel-shaped chest
- Brachydactyly
- Cubitus valgus
- Disproportionate short-trunk short stature
- Enlarged joints
- Flexion contracture
- Genu valgum
- Hypertelorism
- Intervertebral space narrowing
- Irregular epiphyses
- Rhizomelia
- Scoliosis
- Small epiphyses
- Sparse eyebrow
- Waddling gait
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.
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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