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560 Possible Causes for Cardiomyopathy, Retinal Degeneration, Round Face

  • Mucopolysaccharidosis 2

    Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] degeneration Hearing impairment – Deafness Musculoskeletal disease – Short stature; joint stiffness; symptoms of peripheral nerve entrapment Findings from examination may[emedicine.medscape.com] […] mucopolysaccharidosis type VI) is a rare lysosomal storage disorder in which the pathologic storage of glycosaminoglycans in various tissues can lead to severe symptoms, including cardiomyopathy[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Additional signs and symptoms that may develop include: Enlarged head Chronic nasal discharge Retinal degeneration Splenomegaly Enlarged abdominal organs Skeletal dysplasia[medicinenet.com] Currently, no patient has any clinical evidence of cardiomyopathy.[adc.bmj.com]

  • Alstrom Syndrome

    Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[ncbi.nlm.nih.gov] Although growth spurt is normal in early childhood, it plateaus off and individuals with ALMS usually have a short stature, round face, thick ears, frontal alopecia, abnormal[symptoma.com] degeneration before the age of 1 year (P 0.02), the occurrence of urological dysfunction (P 0.02), of DCM (P 0.03), and of diabetes (P 0.03).[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[ncbi.nlm.nih.gov] The eyes presented with severe myopia and retinal dysplasia.[doi.org] , Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic[blueprintgenetics.com]

  • Kearns-Sayre Syndrome

    To the best of our knowledge, this is the youngest patient in the literature to have dilated cardiomyopathy in KSS.[ncbi.nlm.nih.gov] Her face was an unexpressed-rounded and greasy one with an incomplete palpebral ptosis bilaterally (Figure 1), the nails and teeth were normal She was very thin owing to generalized[ispub.com] Fundus examination showed atypical pigmentary retinal degeneration with arterial narrowing.[ncbi.nlm.nih.gov]

  • Neuhauser Syndrome

    Hypertrophic cardiomyopathy in Donohue syndrome. Cardiology in the Young 2016; 26: 815-8 - Kirkwood A, Stuart G, Harding L.[sites.uclouvain.be] The patients have a peculiar face by specific craniofacial anomalies: round face, wide prominent forehead, hypertelorism, broad nasal bridge, bulbous nose, wide philtrum nasolabial[ncbi.nlm.nih.gov] Familial ataxia, hypogonadism and retinal degeneration . Acta Neurol. Scand. 45 , 507–510 (1969). 3. Neuhauser, G . & Opitz, J. M .[nature.com]

  • Spondyloepiphyseal Dysplasia Type Cantú

    , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[genda.com.ar] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org] degeneration - nanophthalmos - glaucoma1278 Brain calcification, Rajab type 8 cases 1574 Retinohepatoendocrinologic syndrome 7 cases178506 Campomelia, Cumming type 8 cases[fliphtml5.com]

  • Duchenne Muscular Dystrophy

    She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function[ncbi.nlm.nih.gov] I couldn’t face another procession of sad phone calls. But, of course, I had to. ‘Nick called his parents, who lived close by, and his dad came round at once.[dailymail.co.uk] Affected individuals may have double vision and problems with upper gaze, and others may have retinitis pigmentosa (progressive degeneration of the retina that affects night[web.archive.org]

  • Rheumatoid Arthritis

    degeneration Leflunomide 20 mg po once/day or, if adverse effects occur, reduced to 10 mg once/day Skin reactions Hepatic dysfunction Alopecia Diarrhea Peripheral neuropathy[merckmanuals.com] (0.50–0.66) Cardiac diseases Acute MI 2.6 (0.9) 7.8 (1.3) 0.31 (0.27–0.34) Chronic ischemic heart disease 4.0 (0.9) 11.7 (0.7) 0.32 (0.29–0.35) Congestive heart failure/cardiomyopathy[ncbi.nlm.nih.gov] These side effects are serious and can include easy bruising, thinning of the bones (osteoporosis), cataracts, weight gain, a round face, susceptibility to infections, diabetes[orthop.washington.edu]

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