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286 Possible Causes for Cardiomyopathy, Retinal Pigmentation, Round Face

  • Mucopolysaccharidosis

    pigment epithelium.[ncbi.nlm.nih.gov] Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] […] 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 2

    Abnormal retinal pigmentation and papilloedema - leading to visual impairment. Type B - mild form This usually presents later and may not be noticed until adulthood.[patient.info] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[symptoma.com]

  • Barth Syndrome

    […] nevi Progressive hereditary glomerulonephritis without deafness Proteus syndrome Radial aplasia-thrombocytopenia syndrome Radiation chimera Renal dysplasia and retinal aplasia[icd9data.com] Grimm, W, Christ, M, Bach, J, Muller, HH, Maisch, B 2003 Noninvasive arrhythmia risk stratification in idiopathic dilated cardiomyopathy: results of the Marburg Cardiomyopathy[dx.doi.org] face with full cheeks, broad forehead, prominent chin, large ears and deep-set eyes What are the causes of Barth syndrome?[childrenshospital.org]

  • Kearns Sayre Syndrome

    The triad of progressive external ophthalmoplegia, atypical retinal pigmentation and cardiac conduction defects characterizes Kearns-Sayre syndrome (KSS), which is most often[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1

    Figure 4 Retinal pigment epithelial changes in a 15-year-old patient with MPS IH/S Hurler/Scheie. A total of 13 patients with MPS IH Hurler had undergone ERGs.[nature.com] Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] […] encephalopathy due to adenosine kinase deficiency Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Hyperprolinemia type 1 Hyperprolinemia type 2 Hypertrophic cardiomyopathy[se-atlas.de]

  • Alstrom Syndrome

    , retinal pigment epithelium atrophy, focal chorioretinal fusion, preretinal fibrosis, bilateral giant optic disc drusen, and optic nerve atrophy.[ncbi.nlm.nih.gov] 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]

  • Neuhauser Syndrome

    The clinical features of Refsum's disease include cerebellar ataxia and retinal dystrophy with pigment changes, bone-spicule formation, optic atrophy, and attenuated retinal[synapse.koreamed.org] 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]

  • Amyloidosis

    The circulating protein is synthesized predominantly in the liver, but there is also important local production in the eye by retinal pigment epithelial cells and by the choroid[nejm.org] OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder that affects over one in 500 persons worldwide.[ncbi.nlm.nih.gov] Weight gain and rounded face. Muscle weakness (uncommon when used intermittently as for treating amyloidosis). Vaginal yeast infection.[circ.ahajournals.org]

  • Rheumatoid Arthritis

    Funduscopic examination and SD-OCT showed a swollen ellipsoid zone (EZ) and a retinal pigment epithelium (RPE) irregularity of the right eye.[ncbi.nlm.nih.gov] (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]

  • Spondyloepiphyseal Dysplasia, Cantu Type

    Pigment Epithelium Sequencing of all coding exons of the gene Deletion and duplication analysis - 1 PRPH2 Retinitis Pigmentosa Sequencing of all coding exons of the gene[cegat.de] , 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]

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