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423 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Macrocephaly

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[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] The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[ncbi.nlm.nih.gov]

  • 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] Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment[raredr.com]

  • 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] 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]

  • Simpson Dysmorphia Syndrome

    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] 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] We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance.[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] The most common prenatal findings in the literature and in this cohort were polyhydramnios and fetal overgrowth with relative macrocephaly.[ncbi.nlm.nih.gov]

  • Launois Syndrome

    , coronary artery disease, insulin-resistance diabetes, depression, and, as mentioned, sleepiness-related accidents.[emedicine.medscape.com] […] for physicians to consider because of its strong association with and potential cause of the most debilitating medical conditions, including hypertension, cardiovascular disease[emedicine.medscape.com]

  • Hypertrichotic Osteochondrodysplasia

    artery disease Plausible inherited candidate causative mutation in TDG Yes Ongoing 12 Muscular atrophy No cause identified No N/A 13 Infantile seizures No cause identified[docksci.com] […] of head or neck Anteverted nares Coarse facial features Curly eyelashes Epicanthus Large sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly[familydiagnosis.com] Clinical description Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted[orpha.net]

  • Gigantism

    Cardiac disease (eg, coronary artery disease, cardiomegaly, sometimes cardiomyopathy) occurs in perhaps one third of patients, with a doubling in the risk of death from cardiac[merckmanuals.com] Children with gigantism may also have coarse facial features which include a larger than normal head, flat nose, and large lips and tongue.[symptoma.com] Abstract We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus[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] […] hairy skin all over the body, a tuft of hair in the parietal region, coarse facial features and a prominent forehead with a large tongue, hepatosplenomegaly and skeletal[dx.doi.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] 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] […] information on rare diseases and orphan drugs.Orpha Number: 1193Disease definitionAtkin-Flaitz syndrome is characterised by moderate to severe intellectual deficit, short stature, macrocephaly[malacards.org]

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