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390 Possible Causes for Cardiomyopathy, Coarse Face, Round Face

  • Mucopolysaccharidosis 2

    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[] In both forms, symptoms include: Carpal tunnel syndrome Coarse features of the face Deafness (gets worse over time) Increased hair growth Joint stiffness Large head A physical[]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[] ERT in the younger sibling resulted in increased growth, an improved 6-minute walk test, less coarse face, slower progression of cardiac valve disease, and the absence of[] […] 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

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Currently, no patient has any clinical evidence of cardiomyopathy.[] Obstructive Sleep Apnea, Pneumonia, Hearing Loss • Skeletal deformities: Spinal Cord or Nerve Root Injury, Joint Abnormalities, Growth Impairment • Cardiopathy: Valve Disease, Cardiomyopathy[]

  • Spondyloepiphyseal Dysplasia Type Cantú

    , 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[] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand[]

  • Hypertrichotic Osteochondrodysplasia

    Diseases related with Cardiomyopathy and Short phalanx of finger In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Short[] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[] However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[]

  • Cri Du Chat Syndrome

    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[] […] lengthens, face becomes "coarse", prominent supra-orbital ridges, deep-set eyes, hypoplastic nasal bridge, severe dental malocclusion, relatively large mouth, and full lower[] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[]

  • Hypothyroidism

    Overt hypothyroidism may exacerbate underlying cardiac disease, but cardiomyopathy severe enough to cause heart failure is rare ( Kahaly 2005 ).[] At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs.[] The exam may also reveal: Thin brittle hair Coarse features of the face Pale or dry skin, which may be cool to the touch Reflexes that are abnormal Swelling of the arms and[]

  • Fabry Disease

    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.[] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[]

  • Pseudohypoparathyroidism

    The authors present the case of a 53-year-old man with ischemic and alcoholic dilated cardiomyopathy and severely reduced ejection fraction, with a cardiac resynchronization[] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[] , dental dysplasia, dry coarse hair, mental retardation pseu·do·hy·po·par·a·thy·roid·ism ( sū'dō-hī'pō-par'ă-thī'royd-izm ) A disorder resembling hypoparathyroidism, with[]

  • Glycogen Storage Disease Type 3

    All 10 of these patients had progressive myopathy, and 6 had progressive cardiomyopathy.[] On examination he had round face, his weight was 11 kg and height was 80 cm, both were less than 3rd percentile for his age.[] Clinical manifestations of the disease include hepatomegaly, muscle weakness, and hypoglycaemia, but no coarse face or mental retardation. 14 Patients with Costello syndrome[]

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