IllnessOsteochondritis dissecans, differential diagnosis
Summary
Short information
A curated panel containing 6 or altogether 8 genes for the comprehensive analysis of the genetically caused forms of Osteochondritis dissecans
ID
OP1131
Number of genes
8
Accredited laboratory test
Examined sequence length
22,7 kb (Core-/Core-canditate-Genes)
26,3 kb (Extended panel: incl. additional genes)
26,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
Informations about the disease
Clinical Comment
Skeletal disorder with abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles, elbows with onset generally in late childhood or adolescence
Synonyms
- 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)
Heredity, heredity patterns etc.
- AD
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
M92.8
Bioinformatics and clinical interpretation
No text defined