IllnessCamurati-Engelmann disease, differential diagnosis

NGS +

Group of disorders

Clinically variable bone dysplasia syndrome with hyperostosis of long bones, skull, spine, pelvis, severe pain in extremities, wide-based waddling gait, joint contractures, muscle weakness, easy fatigability.

• Allelic: Cystic fibrosis lung disease, modifier of (TGFB1)
• Allelic: Exudative vitreoretinopathy 4; Polycystic liver disease 4 with/-out kidney cysts (LRP5)
• Allelic: IBD, immunodeficiency, recurrent viral infections, microcephaly, encephalopathy (TGFB1)
• Allelic: Inflammatory bowel disease, immunodeficiency + encephalopathy (TGFB1)
• Allelic: Osteogenesis imperfecta + decreased bone density; Osteoporosis-pseudoglioma syndrome (LRP5)
• DD: Craniodiaphyseal dysplasia, AD; Sclerosteosis 1 (SOST)
• DD: Endosteal hyperostosis (LRP5)
• DD: Ghosal hematodiaphyseal dysplasia; Thromboxane synthase deficiency (TBXAS1)
• DD: Gracile bone dysplasia; Kenny-Caffey syndrome type 2 (FAM111A)
• DD: Juvenile Paget disease; Paget disease of bone 5, juvenile-onset; Osteoectasia, fam. (TNFRSF11B)
• DD: Osteopetrosis, AD 1; Osteosclerosis; Hyperostosis, endosteal; Osteoporosis susceptibility (LRP5)
• DD: SOST-related sclerosing bone dysplasias including sclerosteosis + van Buchem disease (SOST)
• Diaphyseal dysplasia 1, progressive; Engelmann disease; Progressive diaphyseal dysplasia (TGFB1)