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228 Possible Causes for Coarse Facial Features, Heart Valve Disease, Hirsutism

  • 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] […] large tongue, prominent forehead, joint stiffness, and short stature; upper airway obstruction, recurrent ear infections, noisy breathing, and persistent nasal discharge; hirsutism[emedicine.medscape.com]

  • 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] Additional dermatological findings include hypertrichosis, thickened skin, and multiple Mongolian spots. Hypertrichosis may result in synophrys.[emedicine.medscape.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] Other manifestations include corneal clouding, organomegaly, heart disease, short stature, hernias, facial dysmorphism and hirsutism.[orpha.net]

  • 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] [rarediseases.org] Skin Hirsutism Patients with MPS III are mentally retarded with severe hirsutism and synophrys.[symptoma.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] Affected individuals exhibit severe mental retardation , clouding of the corners of the eyes, deafness , hirsutism (hairiness), enlarged liver and spleen , dwarfism with hunched[britannica.com]

  • 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] Patient had virilization of the external genitalia with hirsutism and masculine voice. Patient had ambiguous genitalia.[joacp.org]

  • Acromegaly

    A 30-year-old Filipino man presented with a 11-year history of coarse facial features and progressive enlargement of hands and feet.[ncbi.nlm.nih.gov] disease includes high blood pressure, enlargement of the heart, abnormal heart rhythms, and heart valve abnormalities.[dermnetnz.org] […] growths) Sleep apnea Widened fingers or toes, with swelling, redness, and pain Other symptoms that may occur with this disease: Colon polyps Excess hair growth in females ( hirsutism[nlm.nih.gov]

  • Hypertrichotic Osteochondrodysplasia

    […] 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] Isolated Nonsyndromic Congenital Heart Disease/Defects NKX2.6 NK2 Homeobox 6 Congenital Heart Diseases (CHD) NODAL Nodal Growth Differentiation Factor Congenital Heart Diseases[bcm.edu] […] syndrome Differential Diagnoses Acquired generalized hypertrichosis Congenital hypertrichosis universalis Dermatologic Manifestations of Hirsutism Dermatologic Manifestations[emedicine.medscape.com]

  • Mucopolysaccharidosis 1 H-S

    facial features, hepatosplenomegaly, multiple radiographic evidence of dysostosis multiplex, manifestations of mild valvular heart disease as per echocardiography, and abnormally[scopemed.org] […] involvement cardiac valve disease: early onset severe regurgitation and stenosis coronary artery disease cardiomegaly: initially hypertrophic then dilated Other features[radiopaedia.org] Other manifestations may include organomegaly, hernias and hirsutism.[orpha.net]

  • Mucopolysaccharidosis 3

    Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties[mpssociety.org] CARDIOVASCULAR Many individuals with MPS show some signs of heart disease.[encyclopedia.com] The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease.[checkorphan.org]

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