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317 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Dysmorphic Face

  • 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 patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral[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]

  • 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] Caution should be exercised if epinephrine is being considered for use in patients with MPS I due to the increased prevalence of coronary artery disease in these patients.[aldurazyme.com]

  • 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] Patients may also have coarse facial features, although this is usually milder than that seen in MPSI or MPSII.[genedx.com] Other common features of this condition include mildly "coarse" facial features, thin tooth enamel, multiple cavities, heart valve abnormalities, a mildly enlarged liver ([ldnz.org.nz]

  • 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] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de]

  • 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]

  • Trichorhinophalangeal 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]

  • 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] facial features, dysostosis multiplex, hearing disabilities, mental developmental delay and skeletal involvement (dysostosis multiplex).[ncbi.nlm.nih.gov]

  • Mucopolysaccharidosis 1S

    Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of the skeleton especially[rarediseases.org] As lysosomal storage continues in the heart, cardiomyopathy, sudden death from arrhythmia, coronary artery disease, and cardiovascular collapse may occur.[ncbi.nlm.nih.gov] facial features, inguinal hernia, umbilical hernia, multiple dysostosis, hepatosplenomegaly and difficulty in breathing; surgical history: right inguinal herniorrhaphy, umbilical[revistamedicina.net]

  • Pallister W Syndrome

    The identification of Syndrome W before the onset of overt impaired glucose tolerance, diabetes, or manifestations of coronary artery disease could have important clinical[jhu.pure.elsevier.com] facial features as child gets older, broad nasal bridge, streaks or patches of lighter or darker skin, sparse hair or bald patches, high arched or cleft palate, shorter arms[dailymail.co.uk] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com]

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