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291 Possible Causes for Conical-Shaped Teeth, Sweat Test Abnormal

  • Ectodermal Dysplasia

    […] with ectodermal dysplasia (ED) include complete or partial hypodontia, anodontia, loss of vertical dimension of occlusion, protuberant lips, malformed and widely spaced conical-shaped[ncbi.nlm.nih.gov] Boys with X-linked ED usually have several missing teeth and conical-shaped front teeth.[craniofacialcenter.ucsf.edu] teeth, and underdeveloped alveolar ridges.[ncbi.nlm.nih.gov]

  • Cystic Fibrosis

    Two sweat tests were abnormal with elevated chloride levels at 78 and 88 mmol/L. DNA sequencing revealed a heterozygous mutation 711 1 G T and an IVS8-T5 allele.[ncbi.nlm.nih.gov] It leads to chronic lung disease, exocrine pancreatic insufficiency, hepatobiliary disease, and abnormally high sweat electrolytes.[msdmanuals.com] These three patients did not have lung disease typical of cystic fibrosis on the basis of sweat testing, spirometry, or base-line nasal potential-difference measurements.[ncbi.nlm.nih.gov]

    Missing: Conical-Shaped Teeth
  • Addison's Disease

    Clinical Medicine & Research Volume 6, Number 1 : 29 doi:10.3121/cmr.2007.754a 2008 Marshfield Clinic Diagnosis–Addison’s Disease Secondary to Tuberculosis of the Adrenal Glands Mrinal M. Patnaik, MD * and Alaka K. Deshpande, MD Mrinal M Patnaik, MD, Department of Internal Medicine, University of Minnesota, Minneapolis, MN[…][web.archive.org]

    Missing: Conical-Shaped Teeth
  • Mucopolysaccharidosis

    MPS VI is an autosomal recessive disorder which occurs due to the deficiency of N-acetyl galactosamine-4-sulfatase (Arylsulfatase B - ARSB) involved in catabolism of dermatan sulfate resulting from disease-causing variations in the ARSB gene. Human Gene Mutation Database (HGMD) search revealed 200 different[…][ncbi.nlm.nih.gov]

    Missing: Conical-Shaped Teeth
  • Myxedema

    Macroglossia is classified as true macroglossia, which exhibits abnormal histology with clinical findings, and relative macroglossia, in which normal histology does not correlate with pathologic enlargement. This report describes an atypical case of morbidity with massive macroglossia secondary to myxedema; the[…][ncbi.nlm.nih.gov]

    Missing: Conical-Shaped Teeth
  • Fucosidosis

    For example, electron microscopic examination of tissue samples from the skin, liver, spleen, heart, lung, kidney, sweat glands, and/or other cells may reveal abnormal “cavities[rarediseases.org] The diagnosis may be confirmed thorough clinical evaluation, detailed patient history, and a variety of specialized tests.[rarediseases.org]

    Missing: Conical-Shaped Teeth
  • Glycogen Storage Disease

    From Wikidata Jump to navigation Jump to search glycogen metabolism disorder that has material basis in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types glycogenosis dextrinosis GSD glycogenoses edit English glycogen storage disease[…][wikidata.org]

    Missing: Conical-Shaped Teeth
  • Glycogen Storage Disease Type 1

    BACKGROUND: Glycogen storage disease type 1 (GSD1) is a rare and genetically heterogeneous metabolic defect of gluconeogenesis due to mutations of either the G6PC gene (GSD1a) or the SLC37A4 gene (GSD1b). Osteopenia is a known complication of GSD1. OBJECTIVES: The aim of this study was to investigate the[…][ncbi.nlm.nih.gov]

    Missing: Conical-Shaped Teeth
  • Hypoparathyroidism

    Reports of adolescent patients presenting with intractable seizures and mental retardation secondary to idiopathic hypothyroidism are uncommon in the literature. In this case, we report a 17-year-old boy who developed recurrent seizures, mental retardation and extensive brain calcinosis related to delayed diagnosis[…][ncbi.nlm.nih.gov]

    Missing: Conical-Shaped Teeth
  • Rapp-Hodgkin Syndrome

    AEC Syndrome is a Rare Genetic Condition Characterized by Teeth Missing (hypodontia) Conical shaped teeth Sweat Glands A reduced ability to sweat (hypohidrosis) Skin Fragile[nfed.org] […] torti and CP. [6] Specialized tests for RHS include skin biopsy to reveal abnormal thinning of epidermis and absence of sweat glands and a scanning electron microscope study[jisppd.com] Teeth that are present may show a characteristic conical, pointed shape (peg-teeth), or have abnormal enamel that is prone to cavities.[encyclopedia.com]

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