Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD)

OMIM number: 165800

Comments closing date: 16/09/2025

Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) is a rare autosomal dominant condition caused by mutations in the ACAN gene on chromosome 15. The ACAN gene provides instructions to make the aggrecan protein for cartilage and bone. Mutations in this gene cause short stature and other bone problems including: advanced bone maturation, early-onset osteoarthritis, mild dysmorphic features, midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. Osteochondritis dissecans is a condition is characterized by areas of bone damage (lesions) caused by the detachment of cartilage and some of the underlying bone from the end of the bone at a joint. People with familial osteochondritis dissecans have multiple lesions that affect the knees, elbows, hips, or ankles. The abnormal aggrecan protein is unable to attach to other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage is involved in the development of the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers have suggested that a disorganized cartilage network in growing bones impairs their growth, leading to short stature.

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