Klinische FragestellungPena-Shokeir-Syndrom I, Differentialdiagnose

NGS +

[Sanger]

Multiple Gelenkkontrakturen, Gesichtsanomalien, pulmonale Hypoplasie; gemeinsames Merkmal verminderte fötale Aktivität

doi: 10.2147/TACG.S154643

• Alias: Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome
• Allelic: Neuronopathy, distal hereditary motor, type VIIA (SLC5A7)
• Allelic: Spastic ataxia 1, AD (VAMP1)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Apert syndrome (FGFR2)
• Arthrogryposis multiplex congenita 3, myogenic type (SYNE1)
• Arthrogryposis multiplex congenita 6 (NEB)
• Arthrogryposis, distal, type 1A (TPM2)
• Arthrogryposis, distal, type 1B (MYBPC1)
• Arthrogryposis, distal, type 2A (Freeman-Sheldon] (MYH3)
• Arthrogryposis, distal, type 2B1 (TNNI2)
• Arthrogryposis, distal, type 2B2 (TNNT3)
• Arthrogryposis, distal, type 2B3, Sheldon-Hall (MYH3)
• Arthrogryposis, distal, type 2B4 (TPM2)
• Arthrogryposis, distal, type 5 (ECEL1)
• Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Bent bone dysplasia syndrome (FGFR2)
• CAP myopathy 2 (TPM2)
• Carney complex variant (MYH8)
• Central core disease (RYR1)
• Centronuclear myopathy 2 (BIN1)
• Charcot-Marie-Tooth disease, type 1D (EGR2)
• Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Combined D-2- and L-2-hydroxyglutaric aciduria (SLC25A1)
• Congenital arthrogryposis with anterior horn cell disease (GLE1)
• Congenital contractures of the limbs + face, hypotonia + developmental delay (NALCN)
• Congenital disorder of glycosylation, type Ij (DPAGT1)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1A (MYH3)
• Contractures, pterygia + spondylocarpotarsal fusion syndrome 1B
• Cortical dysplasia, complex, with other brain malformations (TUBB2B)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Crouzon syndrome (FGFR2)
• Dejerine-Sottas disease (EGR2)
• Dejerine-Sottas disease (MPZ)
• Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Emery-Dreifuss muscular dystrophy 4, AD (SYNE1)
• Escobar syndrome (CHRNG)
• Fetal akinesia deformation sequence 1 (MUSK)
• Fetal akinesia deformation sequence 2 (RAPSYN)
• Fetal akinesia deformation sequence 3 (DOK7)
• Fetal akinesia deformation sequence 4 (NUP88)
• Glycogen storage disease IV (GBE1)
• Hutchinson-Gilford progeria (LMNA)
• Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Hypokalemic periodic paralysis, type 2 (SCN4A)
• Hypomyelinating neuropathy, congenital, 1 (EGR2)
• Hypomyelinating neuropathy, congenital, 2 (MPZ)
• Hypotonia, infantile, with psychomotor retardation + characteristic facies 1 (NALCN)
• Immunodysregulation, polyendocrinopathy + enteropathy, XL (FOXP3)
• Jackson-Weiss syndrome (FGFR2)
• King-Denborough syndrome (RYR1)
• LADD syndrome (FGFR2)
• Lethal congenital contractural syndrome 2 (ERBB3)
• Lethal congenital contractural syndrome 3 (PIP5K1C)
• Lethal congenital contracture syndrome (GLE1)
• Lethal congenital contracture syndrome 4 (MYBPC1)
• Malouf syndrome (LMNA)
• Mandibuloacral dysplasia with type B lipodystrophy (ZMPSTE24)
• Minicore myopathy with external ophthalmoplegia (RYR1)
• Multiple pterygium syndrome, lethal type (CHRNA1)
• Multiple pterygium syndrome, lethal type (CHRND)
• Multiple pterygium syndrome, lethal type (CHRNG)
• Muscular dystrophy, congenital (LMNA)
• Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with brain + eye anomalies, type A, 5 (FKRP)
• Muscular dystrophy-dystroglycanopathy, cong. with/-out mental retardation, type B, 5 (FKRP)
• Myasthenic syndrome, congenital, 10 (DOK7)
• Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSYN)
• Myasthenic syndrome, congenital, 13, with tubular aggregates (DPAGT1)
• Myasthenic syndrome, congenital, 16 (SCN4A)
• Myasthenic syndrome, congenital, 19 (COL13A1)
• Myasthenic syndrome, congenital, 1A, slow-channel (CHRNA1)
• Myasthenic syndrome, congenital, 1B, fast-channel (CHRNA1)
• Myasthenic syndrome, congenital, 20, presynaptic (SLC5A7)
• Myasthenic syndrome, congenital, 21, presynaptic (SLC18A3)
• Myasthenic syndrome, congenital, 23, presynaptic (SLC25A1)
• Myasthenic syndrome, congenital, 25 (VAMP1)
• Myasthenic syndrome, congenital, 2A, slow-channel (CHRNB1)
• Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency (CHRNB1)
• Myasthenic syndrome, congenital, 3A, slow-channel (CHRND)
• Myasthenic syndrome, congenital, 3B, fast-channel (CHRND)
• Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency (CHRND)
• Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
• Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
• Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
• Myasthenic syndrome, congenital, 5 (COLQ)
• Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
• Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects (AGRN)
• Myasthenic syndrome, congenital, 9, ass. w. acetylcholine receptor deficiency (MUSK)
• Myopathy, actin, congenital, with cores (ACTA1)
• Myopathy, actin, congenital, with excess of thin myofilaments (ACTA1)
• Myopathy, cong. with diaphragmatic defects, respiratory insufficiency + dysmorphic face (MYOD1)
• Myopathy, congenital, Compton-North (CNTN1)
• Myopathy, congenital, with fiber-type disproportion 1 (ACTA1)
• Myopathy, congenital, with tremor (MYNPC1)
• Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Myotonic dystrophy 1 (DMPK)
• Myotubular myopathy, XL (MTM1)
• Nemaline myopathy 2, AR (NEB)
• Nemaline myopathy 3, AD/AR (ACTA1)
• Nemaline myopathy 4, AD (TPM2)
• Nemaline myopathy 8, AR (KLHL40)
• Neuromuscular disease, congenital, with uniform type 1 fiber (RYR1)
• Paramyotonia congenita (SCN4A))
• Pfeiffer syndrome (FGFR2)
• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
• Restrictive dermopathy, lethal (LMNA)
• Restrictive dermopathy, lethal (ZMPSTE24)
• Roussy-Levy syndrome (MPZ)
• Saethre-Chotzen syndrome (FGFR2)
• Spinal muscular atrophy, lower extremity-predominant, 2A, AD (BICD2)
• Spinal muscular atrophy, lower extremity-predominant, 2B, AD (BICD2)
• Spinocerebellar ataxia, AR 8 (SYNE1)
• Trismus-pseudocamptodactyly syndrome (MYH8)
• Visceral neuropathy, familial, 1, AR (ERBB3)