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479 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Mental Retardation

  • 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] facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] The above data could reflect the reduced heparan sulfate storage in her tissues and organs, and in particular in the brain, consequently explaining her moderate mental retardation[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] 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] retardation.[medical-dictionary.thefreedictionary.com]

  • Mucopolysaccharidosis 1

    Systems Cardiology Cardiac involvement includes cardiomyopathy, endocardiofibroelastosis, progressive valvular disease, and coronary artery disease.[medicalhomeportal.org] Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Retardation Syndromes 463 L1454611no S1740173 Y alpha-L-iduronidase (IDA, IDUA) deficiency English(JABL) Congenital Mental Retardation Syndromes 463 L1455479no S1741179 Y[doctor.am]

  • Mucopolysaccharidosis 2

    A thickened myocardium eventually leads to coronary artery compromise, myocardial disease, and, in conjunction with airway disease, pulmonary hypertension.[emedicine.medscape.com] Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Diseases Nervous System Diseases Neurologic Manifestations Neurobehavioral Manifestations Mental Retardation Mental Retardation, X-Linked[hon.ch]

  • Alpha-Mannosidosis

    For Cardiovascular Group: Either have coronary artery disease, rhythm or conduction abnormality, cardiomyopathy or valvular disease.[rarediseasesnetwork.org] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov] All patients showed mental retardation and hearing loss from early childhood.[ncbi.nlm.nih.gov]

  • Costello Syndrome

    The most likely diagnosis is: a) Coronary artery disease b) Dilated cardiomyopathy c) Hypertrophic cardiomyopathy 3) In this paper not much detailed information is given about[aadmd.org] facial features and skeletal and cardiac abnormalities.[ncbi.nlm.nih.gov] From Wikidata Jump to navigation Jump to search syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed[wikidata.org]

  • Simpson Dysmorphia Syndrome

    Dry ice used to keep food cold, pyrethroid Pesticides Pre-existing illness—such as anemia, asthma, COPD, and coronary arterial disease—the stresses of flight could exacerbate[wikivisually.com] facial features, widely spaced eyes, a short nose with anteverted nares, gingival overgrowth, a wide mouth, short limbs with short distal phalanges, and a small penis.[zora.uzh.ch] Despite the fact that our patients have most of the minor and several of the more severe malformations, they are not mentally retarded.[ncbi.nlm.nih.gov]

  • Pseudo-Hurler Polydystrophy

    : early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org] These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement[en.wikipedia.org] Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis[familydiagnosis.com]

  • Aspartylglucosaminuria

    For Cardiovascular Group: Either have coronary artery disease, rhythm or conduction abnormality, cardiomyopathy or valvular disease.[rarediseasesnetwork.org] facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] Aspartylglucosaminuria is a progressive genetic disorder belonging to the group of lysosomal storage diseases, with progressive mental retardation appearing in early infancy[symptoma.com]

  • 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] 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] […] and shortness of breath related to heart disease, bypass clogged coronary arteries, effectively treat people who have survived heart attacks and even, in some cases, stop[books.google.com]

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