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646 Possible Causes for Cardiomyopathy, Multiple Congenital Anomalies, 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] […] 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] The two siblings had left ventricle cardiomyopathy, but partial reverse remodelling was induced by enzyme replacement therapy in both cases.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1

    Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial[se-atlas.de] Currently, no patient has any clinical evidence of cardiomyopathy.[adc.bmj.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] A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri[ncbi.nlm.nih.gov] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov]

  • Prader-Willi Syndrome

    Right-sided hypertrophic cardiomyopathy is a common complication in young adults with marked obesity, and has been one of the more common causes of mortality in the past.[clinicaladvisor.com] (menkes, textbook of child neurology, 5th ed, p229) Congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism[icd9data.com] Birth defects are also called congenital anomalies.[en.wikipedia.org]

  • Mulibrey Nanism Syndrome

    cardiomyopathies; Hereditary Hypertrophic cardiomyopathy Dilated cardiomyopathy Errors of Fatty acid oxidation - 2 disorders of carnitine metabolism (See 1 disorders of Carnitine[neuromuscular.wustl.edu] face, frontal bossing and short broad neck with prominent trapezius muscles, tall vertebral bodies, and hip dislocation (Figure 1 c).[ijponline.biomedcentral.com] ZWS causes multiple congenital anomalies dominated by a typical craniofacial dysmorphism, including a high forehead, a large anterior fontanelle, hypoplastic supraorbital[emedicine.medscape.com]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    , Dilated, 1ee MYH6 Cardiomyopathy, Dilated, 1g TTN Cardiomyopathy, Dilated, 1y TPM1 Cardiomyopathy, Familial Hypertrophic, 1 MYH6 Cardiomyopathy, Familial Hypertrophic, 14[selfdecode.com] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] congenital anomalies-hypotonia-seizures syndrome 1, 614080 PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 MEN1 Multiple endocrine neoplasia 1, 131100[gsdseq.ir]

  • Hypothyroidism

    Overt hypothyroidism may exacerbate underlying cardiac disease, but cardiomyopathy severe enough to cause heart failure is rare ( Kahaly 2005 ).[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] congenital musculoskeletal anomalies.[web.archive.org]

  • Zellweger Syndrome

    .: Axonal filamentous spheroids associated with cardiomyopathy with “targetoid fibers”. 1. Clinical, histological and electron microscopic studies.[link.springer.com] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[rarediseases.info.nih.gov] Kabuki make-up syndrome is a multiple congenital anomalies and mental retardation syndrome with characteristic facial appearance, skeletal abnormalities, dermatoglyphic abnormalities[ncbi.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] Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). T.[doi.org]

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