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496 Possible Causes for Cardiomyopathy, Hearing Problem, Round Face

  • Mucopolysaccharidosis 2

    Hearing problems. Swollen and stiff joints. Abdominal hernias. Hepatosplenomegaly.[] Diarrhea Short stature Skeletal deformities Joint stiffness Inguinal or umbilical hernia Developmental delay Intellectual disability Hyperactivity Seizures Hepatomegaly Cardiomyopathy[] […] 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[]

  • Mucopolysaccharidosis

    However, they may present with a variety of physical problems. These may include joint stiffness, heart problems, corneal clouding and hearing loss.[] Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[] […] 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[]

  • Mucopolysaccharidosis 1

    By the age of three growth usually slows down significantly and intellectual and hearing problems become apparent.[] Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Currently, no patient has any clinical evidence of cardiomyopathy.[]

  • Fabry Disease

    Hearing problems - This may include a gradual loss of hearing or ringing in the ears (tinnitus).[] KEYWORDS: Fabry disease; cardiomyopathy, hypertrophic; gadolinium; magnetic resonance; mutation; phenotype; stroke[] Round-robin slide reviews and two face-to-face scoring sessions with a modified Delphi technique [ 23 ] were used to refine the scoring system.[]

  • Propionic Acidemia

    , hearing loss, optic atrophy, skin rash, and alopecia.[] Cardiomyopathy is a frequent complication in propionic acidemia. It is mostly rapidly fatal and independent of the metabolic control or medical intervention.[] It’s not detailed enough to round with 1. Open or select the patient(s) you want 2.[]

  • Congenital Muscular Dystrophy

    […] and respiratory problems.[] cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively.[] , Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic[]

  • Cri Du Chat Syndrome

    Only a few have visual or hearing problems, but many have a hypersensitivity to noise, showing this as fear of particular sounds.[] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[]  Heart defects  Muscular/skeletal problemsHearing/Sight problems  Walking/Talking issues  Behavioral problems (aggression, hyperactivity)  Mental Retardation 5.[]

  • Malnutrition

    Progressive loss of vision and hearing, as well as osteoarthritis, may limit mobility and affect the elderly people's ability to shop for food and prepare meals.[] Carnitine nutritional deficiency Decreased nutritional requirement Deficiency of macronutrients Deficiency of micronutrients Dietary potassium - low Dietary sodium - low Dilated cardiomyopathy[] Face appears round with swollen abdomen and legs. Skin is dry and dark with splits or stretch marks like streaks where stretched.[]

  • Alstrom Syndrome

    […] will often be diagnosed shortly after birth whilst hearing problems usually occur before the age of 10.[] Parental screening echocardiograms revealed no evidence of clinically silent dilated cardiomyopathy.[] 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[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    […] with vision and hearing.[] , myofibrillar MYPN Cardiomyopathy, restrictive, Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM) NEXN Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy[] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[]

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