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383 Possible Causes for Coarse Facial Features, Coronary Artery Disease, Multiple Congenital Anomalies

  • 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 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] anomalies-hypotonia-seizures syndrome Multiple congenital anomalies-hypotonia-seizures syndrome type 2 Multiple mitochondrial DNA deletion syndrome Multiple mitochondrial[se-atlas.de]

  • 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]

  • Winchester Syndrome

    […] sclerosis of infancy , see generalized arterial calcification of infancy median facial cleft syndrome , see frontonasal dysplasia Mediterranean anemia , see beta thalassemia[herenciageneticayenfermedad.blogspot.com] Affiliated tissues include bone , skin and testes , and related phenotypes are gingival overgrowth and coarse facial features OMIM : 57 Winchester syndrome presents with severe[malacards.org] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.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]

  • 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]

  • 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] Costello syndrome is a multiple congenital anomaly and mental retardation syndrome characterized by coarse face, loose skin, cardiomyopathy and predisposition to tumors.[ncbi.nlm.nih.gov]

  • 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] […] and, in more severe cases, multiple congenital anomalies and mental retardation.[ncbi.nlm.nih.gov]

  • Fabry Disease

    , 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] Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991). T.[doi.org]

  • Noonan Syndrome

    We report a 3-year-old boy with giant and atypical coronary artery aneurysms in the acute phase of Kawasaki disease, despite appropriate therapeutic intervention, in Noonan[ncbi.nlm.nih.gov] Costello syndrome: Characterized by growth problems, developmental delay or intellectual disability, coarse facial features, curly or sparse fine hair, soft skin with deep[aafp.org] Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK[ncbi.nlm.nih.gov]

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