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360 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Kyphosis

  • Mucopolysaccharidosis

    Severe coronary artery disease is well recognized in severe type I mucopolysaccharidosis (Hurler syndrome), but unexpected coronary artery disease occurs in other, "non-Hurler[ncbi.nlm.nih.gov] […] and distal junctional kyphosis angles, and the apical vertebral wedge angle.[ncbi.nlm.nih.gov] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1H

    : early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org] Similar changes with localized kyphosis, may occur in the cervical spine.[medcaretips.com] Note his coarse facial features, crouched stance, thickened digits, and protuberant abdomen. Transgenic mice with a targeted disruption of a -L-iduronidase .[medgen.genetics.utah.edu]

  • Mucopolysaccharidosis 1

    Systems Cardiology Cardiac involvement includes cardiomyopathy, endocardiofibroelastosis, progressive valvular disease, and coronary artery disease.[medicalhomeportal.org] An initial kyphosis angle greater than 45 was predictive of progression of more than 10 with sensitivity of 67% and specificity of 88%.[ncbi.nlm.nih.gov] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com]

  • Acromegaly

    Most deaths result from heart failure, coronary artery disease and hypertension-related causes.[myvmc.com] Also, bones and viscera increase in size including nose, cranium, supraorbital ridges, forehead and vertebrae, causing symptoms such as macrognathia, kyphosis, goiter and[symptoma.com] A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4

    artery disease, and other vascular involvement occurring very early in life and, if unrecognized and untreated, contributing significantly to early mortality [ 2 ].[journals.plos.org] Affected individuals usually present with unusual skeletal features including short trunk dwarfism, odontoid hypoplasia, pectus carinatum, kyphosis, gibbus, scoliosis, genu[genedx.com] Children may develop: A pronounced curvature of the spine (i.e. scoliosis or kyphosis) Cloudy corneas of the eyes A heart murmur Inguinal hernia Liver enlargement Loss of[chop.edu]

  • Mucopolysaccharidosis 2

    A thickened myocardium eventually leads to coronary artery compromise, myocardial disease, and, in conjunction with airway disease, pulmonary hypertension.[emedicine.medscape.com] The phenotype of the patient was severe, including joint stiffness, kyphosis, hepatomegaly, hypertrophic cardiomyopathy, moderate mental retardation, and bilateral hearing[ncbi.nlm.nih.gov] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov]

  • Alpha-Mannosidosis

    For Cardiovascular Group: Either have coronary artery disease, rhythm or conduction abnormality, cardiomyopathy or valvular disease.[rarediseasesnetwork.org] Coarse facial features and skeletal abnormalities such as scoliosis, kyphosis, pectus carinatum, genu valgum, and pes equinus may be noted at birth.[symptoma.com] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 4A

    He had no risk factors for coronary artery disease, his 12-lead ECG showed a normal sinus rhythm with no Q waves, and there were no elevations in serum creatine kinase-MB,[circ.ahajournals.org] When kyphosis exceeds 45 degrees, progression is likely.[ncbi.nlm.nih.gov] facial features Coarse facial appearance 0000280 Constricted iliac wings 0003277 Coxa valga 0002673 Disproportionate short-trunk short stature Disproportionate short-trunked[rarediseases.info.nih.gov]

  • Mucopolysaccharidosis 1 H-S

    : early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org] Patients present in the first years of life with musculoskeletal alterations to different degrees including short stature, multiple dysostosis, thoracic-lumbar kyphosis, progressive[orpha.net] facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org]

  • Atkin Syndrome

    Insulin resistance-related factors, but not glycemia, predict coronary artery disease in type 1 diabetes: 10 year follow-up data from the Pittsburg Epidemiology of Diabetes[revespcardiol.org] […] nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Joint laxity Joint instability Lax joints Loose-jointedness Loosejointedness [ more ] 0001388 Kyphosis[rarediseases.info.nih.gov] Abstract We report two sisters with mental retardation, coarse facial features, telecanthus, flat malar region, prominent lower lip, kyphoscoliosis, and tapering fingers.[ncbi.nlm.nih.gov]

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