Create issue ticket

348 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Hepatosplenomegaly

  • Mucopolysaccharidosis

    In a resource poor setting, we report a case of Hunter syndrome, severe subtype, based on global development delay, coarse facies, short stature, hepatosplenomegaly and dysostosis[ncbi.nlm.nih.gov] 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]

  • Chronic Alcoholism

    […] hypertension Apoplexy Coronary heart disease Metabolism : Hypertriglyceridemia Hyperuricemia Hypoglycemia Porphyria cutanea tarda Hyperchromic anemia in folic acid deficiency[flexikon.doccheck.com] Heart attacks and angina [chest pain] are the most common results of coronary heart disease. Someone has a heart attack when their coronary arteries become blocked.[drinkaware.co.uk] Zieveâ s syndrome Pancreas : Acute pancreatitis Chronic calcifying pancreatitis Cardiovascular system: Holiday heart syndromes Dilatative cardiomyopathy caused by alcoholism Arterial[flexikon.doccheck.com]

  • Mucopolysaccharidosis 1

    Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[icd10data.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 2

    Enzyme replacement therapy (ERT) using idursulfase (Elaprase ) was conducted to the patient and it improved hepatosplenomegaly, white blood cells and platelets number, and[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1H

    Symptoms may include DWARFISM , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch] : 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]

  • Alpha-Mannosidosis

    Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly.[ncbi.nlm.nih.gov] 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]

  • Mucopolysaccharidosis 1 H-S

    […] noisy breathing specially during sleep and bulging abdomen noticed recently was examined and investigated thoroughly to reveal corneal clouding, coarse facial features, hepatosplenomegaly[scopemed.org] : early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features include prominent perivascular spaces[radiopaedia.org] Carpal Tunnel Syndrome Cardiac (Valvular) Disease Recurrent Ear, Nose, and Throat Infections Obstructive Airway Disease/Sleep Apnea Corneal Clouding Spinal Cord Compression Hepatosplenomegaly[mps1disease.com]

  • Mucopolysaccharidosis 4

    Abdomen : Hepatosplenomegaly, umbilical & inguinal hernia. MPS II (Hunter syndrome) : Includes severe and attenuated forms.[genetics4medics.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]

  • Fabry Disease

    ; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized[icd9data.com] , ventricular tachycardia, atrial fibrillation and coronary artery disease).[ncbi.nlm.nih.gov] Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info]

  • Aspartylglucosaminuria

    The observation of vacuolated lymphocytes in a coarsely featured two year old female with hepatosplenomegaly, mitral insufficiency, and mild psychomotor retardation led to[ncbi.nlm.nih.gov] 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]

Similar symptoms