Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
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Sign InDescription
A rare genetic skeletal disorder with clinical features of abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.
Mode of Inheritance
- Autosomal dominant inheritance
VARIANTS
3