ORPHA:163665
Spondyloepiphyseal dysplasia tarda, Kohn type
- Body system
- Bone diseases
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:163665 is classified under "Bone diseases" in the Orphanet nomenclature.
Common signs
- Platyspondyly
- Abnormality of the knee
- Abnormality of the ilium
- Abnormality of the ankles
- Abnormal vertebral morphology
- Disproportionate short-trunk short stature