" /> Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans - CISMeF





Preferred Label : Short stature and advanced bone age with or without early-onset osteoarthritis and/or osteochondritis dissecans;

Symbol : SSOAOD;

CISMeF acronym : OD; SSOAOD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteochondritis dissecans, short stature, and early-onset osteoarthritis; OD;

Description : The skeletal disorder osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue and primarily affects the knee, ankle, and elbow joints. Familial osteochondritis dissecans is characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature, and early-onset osteoarthritis (OA) (summary by Stattin et al., 2010). The term 'dissecans' comes from 'dis' meaning 'from' and 'secare' meaning 'cut off,' and is not to be confused with 'desiccans' derived from 'desiccare' meaning to 'dry up.' Dissecans refers to the appearance of part of the bone having been cut away.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the aggrecan gene (ACAN, 155760.0003);

Prefixed ID : #165800;

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03/05/2025


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