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301 Possible Causes for Coarse Facial Features, Heart Valve Disease

  • Mucopolysaccharidosis

    facial features, developmental delay, and an elevated quantitative urine glycosaminoglycan (GAG) level.[ncbi.nlm.nih.gov] […] failure originating mainly from valve disease.[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 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[secure.ssa.gov] Cardiovascular features like incompetence of the valves, mitral valve prolapse, ischemic heart disease, and cadiomegaly resulting in heart failure were noted in one case by[amhsr.org] 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

    Further common findings are coarse facial features, carpal tunnel syndrome, umbilical and inguinal hernia, and hepatomegaly.[symptoma.com] Stiffened joints Skeletal (bone) Carpal tunnel syndrome Heart (valve) disease Recurrent upper airway infections Lung disease/sleep apnea Corneal clouding Spinal cord compression[mps1disease.com] , it is important to develop alternative methods to approach the unmet needs (i.e. bone disease, heart valve disease, corneal opacity, and central nervous system (CNS) involvement[tandfonline.com]

  • Mucopolysaccharidosis 1H

    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] […] involvement cardiac valve disease: early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features[radiopaedia.org] […] 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 6

    Physical Facial features associated with MPS VI include the following: Coarse facial features (Compare the facial features with those of other family members to best appreciate[emedicine.medscape.com] Nearly all children have some form of heart disease, usually involving valve dysfunction.[en.wikipedia.org] Slowly progressive valvar heart disease can be present for years without causing symptoms. Eventually, valvar heart disease can cause a heart murmur.[rarediseases.org]

  • Mucopolysaccharidosis 7

    Features of MPS VII are large head coarse facial features large tongue enlarged liver and spleen heart valve abnormalites umbilical hernia may have narrow airways cloudy cornea[ldnz.org.nz] CARDIOVASCULAR Many individuals with MPS show some signs of heart disease.[encyclopedia.com] […] developmental delay, autistic features, sleep disturbances and mildly coarse facial features.[invitae.com]

  • Mucopolysaccharidosis 4A

    facial features Coarse facial appearance 0000280 Constricted iliac wings 0003277 Coxa valga 0002673 Disproportionate short-trunk short stature Disproportionate short-trunked[rarediseases.info.nih.gov] Many affected individuals also have heart disease, often involving enlarged or diseased heart valves.[en.wikipedia.org] Signs & Symptoms Individuals with MPS disorders share many similar symptoms such as multiple organ involvement, distinctive “coarsefacial features, and abnormalities of[rarediseases.org]

  • Noonan Syndrome

    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] Most babies with Noonan syndrome are also born with heart disease.[webmd.com] It has been also confirmed that mutations in the PTPN11 gene have a very high incidence of congenital heart disease of at least 80%.[news-medical.net]

  • Fabry Disease

    Often patients have slight builds with characteristic coarse facial features and delayed puberty.[patient.info] Storage deposition, and hence pathological disease, occurs preferentially in renal glomerular and tubular epithelial cells, myocardial cells, heart valve fibrocytes, neurons[books.google.de] The patient is 10 years old and presents severe mental handicap, coarse face, hepatosplenomeagly, dysostosis multiplex, joint contractures, obstructive airway disease, mitral[ncbi.nlm.nih.gov]

  • Pseudo-Hurler Polydystrophy

    These patients usually have skeletal abnormalities, coarse facial features, short height, corneal clouding, carpal tunnel syndrome, aortic valve disease and mild enlargement[en.wikipedia.org] […] involvement cardiac valve disease: early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features[radiopaedia.org] Symptoms of Pseudo-Hurler polydystrophy Clinical features : Imported from Human Phenotype Ontology (HPO) Abnormality of head or neck Coarse facial features Craniosynostosis[familydiagnosis.com]

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