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57 Possible Causes for Cardiomyopathy, Elbow Dimples, Joint Contracture

  • Arthrogryposis due to Muscular Dystrophy

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] ·ses (-sēz) The permanent fixation of a joint in a contracted position. arthrogryposis multiplex congenita A rare sporadic condition characterised by joint contractures, dislocations[medical-dictionary.thefreedictionary.com] […] muscular dystrophy, Reducing bod myopathy XL 26 62 FKBP10 Bruck syndrome 1, Osteogenesis imperfecta, type XI AR 20 44 FKTN Muscular dystrophy-dystroglycanopathy, Dilated cardiomyopathy[blueprintgenetics.com]

  • Arthrogryposis Multiplex Congenita

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] Prenatal diagnosis is usually based on the detection of diminished fetal movements and joint contractures on ultrasound.[ncbi.nlm.nih.gov] AMC is rarely associated with cardiomyopathy.[ncbi.nlm.nih.gov]

  • Neurogenic Arthrogryposis Multiplex Congenita

    ,flexed and ulnarly deviated wrist AMC associated characteristics -Common to both type: clubfeet, flexed, and ulnarly deviated wrists, IR shoulders -Scoliosis Dimpling of[quizlet.com] English neurogenic arthrogryposis multiplex congenita congenital joint contracture in two or more areas of the body arthrogryposis multiplex congenita AMC Guérin-Stern syndrome[wikidata.org] Food and Drug Administration granted Priority Review to Pfizer for its application to market tafamidis, its treatment for transthyretin amyloid cardiomyopathy (ATTR-CM), a[globalgenes.org]

  • Eosinophilic Fasciitis

    In patients with insidious onset or without treatment, skin changes can evolve from edema to induration and peau d' orange dimpling.[medpagetoday.com] A 14-year-old boy was suspected of having a myopathy with joint contractures.[ncbi.nlm.nih.gov] Possible cardiac disease including atrioventricular conduction defects, tachyarrhythmias and dilated cardiomyopathy. Gastrointestinal ulcers and infections.[patient.info]

  • Arthrogryposis Syndrome

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] A contracture is a limitation in the range of motion of a joint … What causes it?[ibis-birthdefects.org] A sporadic patient developed decompensated dilated cardiomyopathy. Interestingly no mutation was found in either the FBN2 or FBN1 gene in this patient.[bredagenetics.com]

  • Autosomal-Recessive Non-Lethal Multiple Pterygium Syndrome

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] contractures, ptosis, camptodactyly of the hands with hypoplastic flexion creases, vertebral fusions, severe scoliosis and short stature.[orpha.net] Multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy. Pediatric Cardiology, 17 , 53–56.[link.springer.com]

  • Antenatal-Onset Multicore Myopathy with Arthrogryposis

    […] of the elbows and knees • Congenital hip dislocation • Joint laxity • Joint contractures • Club feet • Arthrogryposis multiplex congenita  Head Size – Microcephaly – Cerebral[dnbpediatrics.com] Arthrogryposis multiplex congenita ( AMC ), or simply arthrogryposis, describes congenital joint contracture in two or more areas of the body.[en.wikipedia.org] ", keywords "TIBIAL MUSCULAR-DYSTROPHY, EARLY RESPIRATORY-FAILURE, MULTI-MINICORE DISEASE, C-TERMINAL TITIN, DILATED CARDIOMYOPATHY, HYPERTROPHIC CARDIOMYOPATHY, CONGENITAL[kclpure.kcl.ac.uk]

  • X-Linked Congenital Lower Limb Arthrogyrposis

    Other features included dimples in the elbows, short and tapering fingers, and sacral dimple. He had several surgeries to correct the lower limb skeletal anomalies.[flipper.diff.org] Knee flexion contracture MedGen UID: 98042 • Concept ID: C0409355 • Finding A bent (flexed) knee joint that cannot be straightened actively or passively.[ncbi.nlm.nih.gov] , dilated 1C, 601493 LMNA Cardiomyopathy, dilated, 1A, 115200 TTN Cardiomyopathy, dilated, 1G, 604145 BAG3 Cardiomyopathy, dilated, 1HH, 613881 DES Cardiomyopathy, dilated[gsdseq.ir]

  • Congenital Neuropathy with Arthrogryposis Multiplex

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] […] flexion Neurologic Central Nervous System: wide-based gait extensor plantar responses delayed walking spasticity (1 of 4 patients) Skeletal: joint contractures arthrogryposis[malacards.org] […] right ventricular cardiomyopathy arrhythmogenic right ventricular dysplasia/cardiomyopathy , see Arrhythmogenic right ventricular cardiomyopathy ARS , see Axenfeld-Rieger[herenciageneticayenfermedad.blogspot.com]

  • Lethal Congenital Contracture Syndrome 6

    Pterygia (these are winglike triangular membranes occurring typically in the neck, knees, elbows, ankles or fingers).[patient.info] […] atrophy and congenital non-progressive joint contractures.[uniprot.org] 1A 6 Dilated Cardiomyopathy 1Aa 6 Dilated Cardiomyopathy 1BB 1 Dilated Cardiomyopathy 1C 6 Dilated Cardiomyopathy 1CC 6 Dilated Cardiomyopathy 1D 4 Dilated Cardiomyopathy[preventiongenetics.com]

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