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21 Possible Causes for Beaked Nose, Muscle Calcification, Systemic Scleroderma

  • Werner Syndrome

    , hair thins and greys Stunted growth, short stature Minor features: Reduction in bone density (osteoporosis); bone, tissue calcification Progressive loss of fertility, sexual[dovemed.com] An excellent discussion of the distinguishing features that separate systemic scleroderma from WS is also presented.) Capell, BC, Tlougan, BE, Orlow, SJ.[dermatologyadvisor.com] Grating hair, scanty eyebrows, a pinched or beaked nose, protuberant eyes and the absence of eyelashes contribute to the presenile appearance.[whonamedit.com]

  • Diffuse Scleroderma

    […] sclerosis or systemic scleroderma Progressive systemic sclerosis Scleroderma syndrome Scleroderma PSS Systemic Scleroderma Scleroderma, Diffuse SSc Scleroderma, Systemic[wikidata.org] 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[dermnetnz.org] Abstract Circulating autoantibodies against a variety of nuclear and nucleolar antigens are characteristic serologic findings in systemic scleroderma.[ncbi.nlm.nih.gov]

  • Sclerodactyly

    Extensive damage and fibrosis of subcutaneous tissues and the dermis is the end-result, and in severe cases, muscle atrophy, subcutaneous calcifications, trophic ulcers, and[symptoma.com] Systemic scleroderma often affects the hands. The initial stage is swelling (edema), which can last for weeks, months, or years.[doctorsgates.blogspot.com] 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[dermnetnz.org]

  • Sanjad-Sakati Syndrome

    In addition, there is much in vitro evidence that hyperphosphatemia may have a proinflam-matory role 14 that could ultimately contribute to the calcification observed in our[scielo.br] The facial features included microcephaly, thin lips, beaked nose, low set ears, and a retrognathic mandible.[ncbi.nlm.nih.gov] DISCUSSION Intestinal pseudo obstruction encompasses a broad range of disorders and is classified as primary (idiopathic) or secondary to other diseases (scleroderma, systemic[ghrnet.org]

  • Progeria

    This implies that the drug is helping the smooth muscle cells work better, but not remedying the underlying symptoms.[news-medical.net] The child also presented scleroderma plaques on the abdomen.[ncbi.nlm.nih.gov] […] wasting, skin atrophy, disseminated skeletal osteoporosis (documented for at least 25 years), especially in the vertebral column and metacarpal joints with short stature, beaked[ncbi.nlm.nih.gov]

  • Nestor-Guillermo Progeria Syndrome

    […] wasting, nail dystrophy, stiff joints, tight skin, subcutaneous calcifications, osteoporosis, loss of eyesight, kidney failureCancer, CKD, COPD, diabetes, neurodegenerative[nature.com] […] 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[checkrare.com] […] sclerosis Localized Scleroderma Sjogren’s Syndrome Congenital symmetric circumferential skin creases Pellagra Cutaneous lupus erythematosus Chilblains Wegener’s granulomatosis[csirnotes.com]

  • Genee-Wiedemann Syndrome

    […] generalized arterial calcification of infancy generalized lipodystrophy, see congenital generalized lipodystrophy generalized lymphatic dysplasia, see Hennekam syndrome genetic[elbiruniblogspotcom.blogspot.com] Clinical aspects of systemic and localized scleroderma. Curr Opin Rheumatol 1994; 6:628-636.[dentisty.org] Genee-Wiedemann acrofacial dysostosis, see Miller syndrome Genee-Wiedemann syndrome, see Miller syndrome general fibrosis syndrome, see congenital fibrosis of the extraocular muscles[elbiruniblogspotcom.blogspot.com]

  • Cenani Syndactylism

    , Hypophosphatemic rickets FGF23 Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic FHL1 Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy[genda.com.ar] nose - Cataract / lens opacification - Ectopic / horseshoe / fused kidneys - Ectropion / entropion / eyelid eversion - Elbow dislocation - Enamel anomaly - Flat cheek bones[csbg.cnb.csic.es] […] from A to Z: Gastrointestinal Involvement: Bowel Dysfunction Systemic Scleroderma can affect the bowel by causing constipation: diarrhea, bowel incontinence, Intestinal Pseudo-Obstruction[catsclem.nl]

  • Gorlin-Chaudhry-Moss Syndrome

    Generalized arterial calcification of infancy generalized epilepsy with febrile seizures plus , see Genetic epilepsy with febrile seizures plus generalized lipodystrophy[herenciageneticayenfermedad.blogspot.com] We report a new association of PHID syndrome with severe systemic inflammation, scleroderma-like changes, and cardiomyopathy.[biomedsearch.com] Extraoral features of this patient were a broad forehead, hypertelorism, broad nasal bridge, beaked nose, and thin upper lip. There was the presence of dry skin.[zdoc.site]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    , Hypophosphatemic rickets FGF23 Hypophosphatemic rickets, Tumoral calcinosis, hyperphosphatemic FHL1 Emery-Dreifuss muscular dystrophy, Myopathy with postural muscle atrophy[genda.com.ar] cutaneous systemic sclerosis Childhood-onset nemaline myopathy Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate[csbg.cnb.csic.es] Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular ...[kegg.jp]

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