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63 Possible Causes for Beaked Nose, Cardiomyopathy, Systemic Scleroderma

  • Systemic Scleroderma

    , rare rheumatologic disease, lung disease, autoimmune cardiomyopathy Authority control Q5340515 Reasonator Scholia Statistics Subcategories This category has the following[] Face Matt telangiectases on face, chest, palms Peri-oral furrowing (fat loss) Microstomia (limited oral aperture defined as interlabial distance 4.5 cm) Beaked nose Other[] Patients diagnosed with systemic scleroderma can be categorized under two wide categories: diffuse systemic sclerosis (dSSc) and limited cutaneous systemic sclerosis (lSSc[]

  • Diffuse Scleroderma

    Severe organ involvement was defined as the presence of any of the following: 1) in the kidney, scleroderma "renal crisis"; 2) in the heart, cardiomyopathy, symptomatic pericarditis[] Face Matt telangiectases on face, chest, palms Peri-oral furrowing (fat loss) Microstomia (limited oral aperture defined as interlabial distance 4.5 cm) Beaked nose Other[] […] sclerosis or systemic scleroderma Progressive systemic sclerosis Scleroderma syndrome Scleroderma PSS Systemic Scleroderma Scleroderma, Diffuse SSc Scleroderma, Systemic[]

  • Werner Syndrome

    1A Dilated cardiomyopathy 1A Dilated cardiomyopathy 1AA Dilated cardiomyopathy 1BB Dilated cardiomyopathy 1C Dilated cardiomyopathy 1D Dilated cardiomyopathy 1E Dilated cardiomyopathy[] An excellent discussion of the distinguishing features that separate systemic scleroderma from WS is also presented.) Capell, BC, Tlougan, BE, Orlow, SJ.[] Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance.[]

  • Progeria

    The most common manifestation is dilated cardiomyopathy (DCM), occurring in conjunction with variable skeletal muscle involvement but without involvement of the coronary arteries[] […] wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked[] The child also presented scleroderma plaques on the abdomen.[]

  • Sclerodactyly

    […] diarrhoea / constipation Incontinence (anorectal sphincter dysfunction ) Cardiopulmonary symptoms Interstitial lung disease Pulmonary artery hypertension Cardiac scleroderma ( cardiomyopathy[] Systemic scleroderma often affects the hands. The initial stage is swelling (edema), which can last for weeks, months, or years.[] […] sclerosis (scleroderma) is sclerodactyly .[]

  • Sanjad-Sakati Syndrome

    Autism spectrum disorder - a genetic disease with modulating environmental and epigenetic factors Barth syndrome - a disease of impaired fatty-acid metabolism lipotoxic cardiomyopathy[] DISCUSSION Intestinal pseudo obstruction encompasses a broad range of disorders and is classified as primary (idiopathic) or secondary to other diseases (scleroderma, systemic[] The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible.[]

  • Nestor-Guillermo Progeria Syndrome

    Disease Type of connection Familial isolated dilated cardiomyopathy X-linked Emery-Dreifuss muscular dystrophy Cone rod dystrophy Leber congenital amaurosis Retinitis pigmentosa[] […] blood vessels, muscles, and internal organs.There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood[] […] sclerosis Localized Scleroderma Sjogren’s Syndrome Congenital symmetric circumferential skin creases Pellagra Cutaneous lupus erythematosus Chilblains Wegener’s granulomatosis[]

  • Hallermann Syndrome

    Stress-Kardiomyopathie ICD 10 : I42 Synonyme : Ballooning cardiomyopathy, broken heart syndrome, Gebrochenes-Herz-Syndrom, Tako-Tsubo-Kardiomyopathie, Tako-Tsubo-Syndrom[] The Hallermann-Streiff syndrome is characterized by bird-like face, micropthalmia, cataracts, micrognathia, beaked nose, abnormal dentition, hypotrichosis, cutaneous atrophy[] Abstract The Hallermann-Streiff syndrome is characterized by dyscephaly, hypotrichosis, microphthalmia, cataracts, beaked nose, micrognathia, and proportionate short stature[]

  • Scleroderma

    Postmortem examination of the heart showed diffuse patchy interstitial fibrosis, the typical lesion of systemic sclerosis-related cardiomyopathy, but normal coronary arteries[] systemic scleroderma .[] Face Matt telangiectases on face, chest, palms Peri-oral furrowing (fat loss) Microstomia (limited oral aperture defined as interlabial distance 4.5 cm) Beaked nose Other[]

  • Crouzon Syndrome-Acanthosis Nigricans Syndrome

    (paternal mutation exclusion) Information sheet Cardiovascular Disease Familial hypercholesterolaemia LDLR, APOB, PSCK9, LDLRAP1 NGS panel Information sheet Hypertrophic Cardiomyopathy[] cutaneous systemic sclerosis Synonym(s): - Crouzono-dermoskeletal syndrome Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis[] The craniosynostosis causes changes to the shape of the head as well as unique facial features that may include wide-set eyes, a beaked nose, and a small upper jaw.[]

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