Klinische FragestellungOsteochondritis dissecans, Differentialdiagnose

NGS +

Skeletterkrankung mit abnormer Knorpelskelett-Entwicklung, unverhältnismäßig kleiner Statur und Skelettverformungen, die hauptsächlich Knie, Hüften, Knöchel und Ellbogen betrifft und im Allgemeinen in der späten Kindheit oder Jugend auftritt

• Alias: Familial osteochondritis dissecans
• Allelic: Atrial fibrillation, familial, 12 (ABCC9)
• Allelic: Cardiomyopathy, dilated, 1O (ABCC9)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Achondrogenesis, type II or hypochondrogenesis (COL2A1)
• Allelic: Pelger-Huet anomaly (LBR)
• Allelic: Pelger-Huet anomaly with mild skeletal anomalies (LBR)
• Allelic: Reynolds syndrome (LBR)
• Allelic: Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
• Cantu syndrome (ABCC9)
• Czech dysplasia (COL2A1)
• Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Epiphyseal dysplasia, multiple, with myopia and deafness (COL2A1)
• Greenberg skeletal dysplasia (LBR)
• Hypertrichotic osteochondrodysplasia (ABCC9)
• Kniest dysplasia (COL2A1)
• Legg-Calve-Perthes disease (COL2A1)
• Loeys-Dietz syndrome 3 (SMAD3)
• Meier-Gorlin syndrome 1 (ORC1)
• Osteoarthritis with mild chondrodysplasia (COL2A1)
• Osteochondritis dissecans and short stature (ACAN)
• Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (TAPT1)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• SED congenita (COL2A1)
• SMED Strudwick type (COL2A1)
• Short stature, advanced bone age, with/-out early osteoarthritis or osteochondritis dissecans (ACAN)
• Spondyloepimetaphyseal dysplasia, aggrecan type (ACAN)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondyloperipheral dysplasia (COL2A1)
• Spondyloperipheral dysplasia, Kimberly type (ACAN)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type V (COL9A2)