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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[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] 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[medlineplus.gov]

  • Mucopolysaccharidosis

    Cardiac involvement is common in MPS patients and usually consists of progressive valvular thickening with incompetence and cardiomyopathy.[ncbi.nlm.nih.gov] 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[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 1

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

  • 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] 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[rarediseases.info.nih.gov]

  • 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[mendelian.co] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] However, the degree and extent of facial deformity varies and the judgment of abnormality, such as “triangular” or “coarseface, hypertelorism, “nasal contour” or “short[jle.com]

  • 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[icd9data.com] […] lengthens, face becomes "coarse", prominent supra-orbital ridges, deep-set eyes, hypoplastic nasal bridge, severe dental malocclusion, relatively large mouth, and full lower[en.wikibooks.org] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov]

  • Hypothyroidism

    Overt hypothyroidism may exacerbate underlying cardiac disease, but cardiomyopathy severe enough to cause heart failure is rare ( Kahaly 2005 ).[dx.doi.org] At clinical examination, she presented with bradycardia, pale and round face, pseudohypertrophy of calf muscles and no pitting edema of the limbs.[ncbi.nlm.nih.gov] 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[nlm.nih.gov]

  • Fabry Disease

    KEYWORDS: Fabry disease; cardiomyopathy, hypertrophic; gadolinium; magnetic resonance; mutation; phenotype; stroke[ncbi.nlm.nih.gov] Round-robin slide reviews and two face-to-face scoring sessions with a modified Delphi technique [ 23 ] were used to refine the scoring system.[ncbi.nlm.nih.gov] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

  • 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[elsevier.pt] PHP1a The constellation of PHP1a, also referred to as AHO, consists of short stature, round face, obesity, brachydactyly, brachymetacarpia, soft tissue ossification, dental[symptoma.com] , 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[medical-dictionary.thefreedictionary.com]

  • Glycogen Storage Disease Type 3

    All 10 of these patients had progressive myopathy, and 6 had progressive cardiomyopathy.[annals.org] 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.[indianpediatrics.net] Clinical manifestations of the disease include hepatomegaly, muscle weakness, and hypoglycaemia, but no coarse face or mental retardation. 14 Patients with Costello syndrome[jmg.bmj.com]

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