Klinische FragestellungMultiples-Pterygium-Syndrom, lethal; Differentialdiagnose

NGS +

Intrauterine Wachstumsretardierung, fetale Akinesie, multiple Gelenkkontrakturen, die eine schwere Arthrogrypose + Pterygie (Flügelfell) über mehrere Gelenke verursachen. Zystisches Hygrom und/oder fetaler Hydrops sind fast immer vorhanden.

• Alias: AR lethal multiple pterygium syndrome, LMPS
• Alias: Multiple pterygium syndrome, lethal type
• Allelic: CHAND syndrome (RIPK4)
• Allelic: Central core disease (RYR1)
• Allelic: Erythroleukemia, familial, susceptibility to (ERBB3)
• Allelic: Fetal akinesia deformation sequence (RAPSN)
• Allelic: King-Denborough syndrome (RYR1)
• Allelic: Malignant hyperthermia susceptibility 1 (RYR1)
• Allelic: Minicore myopathy with external ophthalmoplegia (RYR1)
• Allelic: Myasthenic syndrome, congenital, 11, assoc. w. acetylcholine receptor deficiency (RAPSN)
• Allelic: Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
• Allelic: Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
• Allelic: Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
• Allelic: Myasthenic syndrome, congenital, 3C, assoc. w. acetylcholine receptor deficiency (CHRND)
• Allelic: Visceral neuropathy, familial, 1, AR (ERBB3)
• Arthrogryposis, distal, type 2A, Freeman-Sheldon (MYH3)
• Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
• Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A (MYH3)
• Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B (MYH3)
• Escobar syndrome [Multiple pterygium syndrome, non-lethal variant] (CHRNG)
• Lethal congenital contractural syndrome 2 (ERBB3)
• Multiple pterygium syndrome, lethal type (CHRNA1, CHRND, CHRNG)
• Nemaline myopathy 2, AR (NEB)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Popliteal pterygium syndrome, Bartsocas-Papas type 1 (RIPK4)
• Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)