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336 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Enlargement of the Spleen

  • Mucopolysaccharidosis 1H

    Affected individuals exhibit severe mental retardation, clouding of the corners of the eyes, deafness, hirsutism (hairiness), enlarged liver and spleen, dwarfism with hunched[britannica.com] : 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]

  • Mucopolysaccharidosis 2

    Individuals with this disorder may experience the following signs: abnormal retina, heart murmur and leaky heart valves, enlarged liver (hepatomegaly) enlarged spleen (splenomegaly[secure.ssa.gov] A thickened myocardium eventually leads to coronary artery compromise, myocardial disease, and, in conjunction with airway disease, pulmonary hypertension.[emedicine.medscape.com] There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms. 2 Symptoms[rare2aware.com]

  • Mucopolysaccharidosis 1

    […] liver and spleen Hernia (inguinal or umbilical) Hearing loss Delayed mental development Coarse facial features Communicating hydrocephalus (fluid on the brain) Abnormally[mps1disease.com] 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]

  • Mucopolysaccharidosis 1 H-S

    facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] Enlargement of the spleen and liver helps to confirm it. These conditions have a poor prognosis.[disorders.eyes.arizona.edu] : early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org]

  • Mucopolysaccharidosis

    […] tongue), corneal clouding, hearing loss, heart problems, an enlarged liver and spleen, hernias, chronic nasal congestion and ear infections.[luriechildrens.org] 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]

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] […] liver and spleen, anemia, and blindness Conditions characterized by abnormal lipid deposition due to disturbance in lipid metabolism, such as hereditary diseases involving[icd9data.com] , ventricular tachycardia, atrial fibrillation and coronary artery disease).[ncbi.nlm.nih.gov]

  • Chronic Alcoholism

    Leukopenia and Thrombocytopenia due to direct bone marrow effect, but also from cirrhosis/splenomegaly.[errolozdalga.com] […] hypertension Apoplexy Coronary heart disease Metabolism : Hypertriglyceridemia Hyperuricemia Hypoglycemia Porphyria cutanea tarda Hyperchromic anemia in folic acid deficiency[flexikon.doccheck.com] If done for other reasons, abdominal ultrasonography or CT may suggest fatty liver or show splenomegaly, evidence of portal hypertension, or ascites.[merckmanuals.com]

  • Mucopolysaccharidosis 4

    Other features include intellectual disability, enlarged liver and spleen, stiffness of the joints, hearing loss and seizures. No treatment is known.[sema4genomics.com] 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] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com]

  • Simpson Dysmorphia Syndrome

    Simpson-Golabi-Behmel syndrome can also cause heart defects, malformed or abnormally large kidneys, an enlarged liver and spleen (hepatosplenomegaly), and skeletal abnormalities[ghr.nlm.nih.gov] 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]

  • Aspartylglucosaminuria

    facial features, and skeletal abnormalities become evident by adolescence.[medical-dictionary.thefreedictionary.com] Less severe symptoms include: enlargement of the spleen and liver diarrhea People with aspartylglucosaminuria may have lower than average height, because they tend to go through[en.wikipedia.org] For Cardiovascular Group: Either have coronary artery disease, rhythm or conduction abnormality, cardiomyopathy or valvular disease.[rarediseasesnetwork.org]

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