A rare primary bone dysplasia with characteristics of proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs and lordosis. Caused by heterozygous mutation in the ACAN gene on chromosome 15q26. [from
SNOMEDCT_US]