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short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans

A rare genetic skeletal disorder characterized clinically by 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.

Therapeutic area
Immunology / Inflammation
Rarity
Unknown
Prevalence
MONDO
MONDO:0100462

Overview

A rare genetic skeletal disorder characterized clinically by 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.

Content last reviewed: 2026-06