ErkrankungSpondylocarpotarsale Synostose, Differentialdiagnose

SP3149_DH

• Mild to severe symptoms: SCT syndrome + Larsen syndrome > AOI +AOIII + POCD
• Atelosteogenesis types I, AOI (FLNB) + III AOIII (FLNB)
• Larsen syndrome (FLNB)
• Piepkorn osteochondrodysplasia, POCD (FLNB)
• Spondylocarpotarsal synostosis, SCT syndrome (FLNB)
• Allelic: Acromesomelic dysplasia 2A (GDF5)
• Allelic: Acromesomelic dysplasia 2B (GDF5)
• Allelic: Acromesomelic dysplasia 2C, Hunter-Thompson type (GDF5)
• Allelic: Brachydactyly, type A1, C (GDF5)
• Allelic: Brachydactyly, type A2 (GDF5)
• Allelic: Brachydactyly, type B2 (NOG)
• Allelic: Brachydactyly, type C (GDF5)
• Allelic: Leber congenital amaurosis 17 (GDF6)
• Allelic: Microphthalmia with coloboma 6, digenic (GDF6)
• Allelic: Microphthalmia, isolated 4 (GDF6)
• Allelic: Osteoarthritis-5 (GDF5)
• Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
• Allelic: Symphalangism, proximal, 1A (NOG)
• Allelic: Symphalangism, proximal, 1B (GDF5)
• Arthrogryposis, distal, type 2A, Freeman-Sheldon (MYH3)
• Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
• Contractures, pterygia, + spondylocarpostarsal fusion syndrome 1A (MYH3)
• Contractures, pterygia, + spondylocarpotarsal fusion syndrome 1B (MYH3)
• Klippel-Feil syndrome 1, AD (GDF6)
• Multiple synostoses syndrome 1 (NOG)
• Multiple synostoses syndrome 2 (GDF5)
• Multiple synostoses syndrome 3 (FGF9=
• Multiple synostoses syndrome 4 (GDF6)
• Spondylocostal dysostosis 1, AR (DLL3)
• Spondylocostal dysostosis 2, AR (MESP2)
• Spondylocostal dysostosis 3, AR (LFNG)
• Spondylocostal dysostosis 4, AR (HES7)
• Spondylocostal dysostosis 5 (TBX6)
• Spondylocostal dysostosis 6 (RIPPLY2)
• Tarsal-carpal coalition syndrome (NOG)