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4,285 Possible Causes for Autosomal Dominant, Pain, Pediatric Disorder

  • Familial Adenomatous Polyposis

    Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr. 1975 Jan. 86(1):84-8. [Medline]. Bisgaard ML, Fenger K, Bülow S, Niebuhr E, Mohr J.[emedicine.medscape.com] English familial adenomatous polyposis autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the[wikidata.org] A 38-year-old lady presented with abdominal pain, diarrhoea and iron deficiency anemia. There was no history of colorectal cancer in the family.[ncbi.nlm.nih.gov]

  • Hereditary Spherocytosis

    The 2003 Healthcare Cost and Utilization Project (HCUP) Kids’ Inpatient Database (KID), a robust and widely used measure of pediatric disorders, has estimated that the number[touchoncology.com] In the autosomal dominant form of HS, red cell spectrin levels range from 60-80% of normal.[emedicine.com] A 16-year-old male patient with known hereditary spherocytosis presented with a 4-day history of chest pain and lethargy.[ncbi.nlm.nih.gov]

  • Acute Hepatic Porphyria

    Tortorelli S, Kloke K, Raymond K: Chapter 15: Disorders of porphyrin metabolism. In Biochemical and Molecular Basis of Pediatric Disease. Fourth edition.[mayomedicallaboratories.com] Apart from an autosomal recessive pattern of inheritance seen in ADP, all hepatic porphyrias are caused by autosomal dominant mutations, leading to accumulation of neurotoxic[symptoma.com] Genetic counseling Acute hepatic porphyrias are monogenic hereditary disorders that are transmitted in an autosomal dominant manner (except the hereditary deficit of delta-aminolevulinic[orpha.net]

  • Osteogenesis Imperfecta

    Neurology and Musculoskeletal disorders and Home care, Astrid Lindgren Children's Hospital at Karolinska University Hospital, Stockholm, Sweden.[ncbi.nlm.nih.gov] Most types are autosomal dominant and are associated with mutations in collagen type i Osteogenesis imperfecta (oi) is a genetic disorder in which bones break easily.[icd9data.com] What is Known: • Acute and chronic musculoskeletal pain remains a major issue in OI. • Pain has a negative impact on quality of life.[ncbi.nlm.nih.gov]

  • Facioscapulohumeral Muscular Dystrophy

    Complications of Neuromuscular Disorders. In Epp, Jr., CH & Bowen Jr., Complications in Pediatric Orthopaedic Surgery, 627-630,1995 Tachdjian M.O.[gait.aidi.udel.edu] English facioscapulohumeral muscular dystrophy An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm.[wikidata.org] These myalgic pains could be particularly difficult to control.[ncbi.nlm.nih.gov]

  • Epidermolysis Bullosa

    The Pain Quality Assessment Scale (PQAS) is an adjusted version of the validated Neuropathic Pain Scale and includes 20 pain qualities and descriptors.[ncbi.nlm.nih.gov] Bullous disorders of childhood. In: Hurwitz Clinical Pediatric Dermatology: A Textbook of Skin Disorders of Childhood and Adolescence. 5th ed.[mayoclinic.org] dominant or autosomal recessive manner, depending on the subtype present.[rarediseases.info.nih.gov]

  • Blue Rubber Bleb Nevus Syndrome

    Phone: 617-636-5025 Fax #: 617-636-8122 Pediatric surgery, pediatric trauma, congenital disorders requiring surgery in newborns, GI inflammatory diseases in children, pediatric[floatinghospital.org] "Blue rubber bleb nevus syndrome" is an autosomal dominant trait characterized by multiple cutaneous and extracutaneous angiomas of dark blue color and rubbery consistency[ncbi.nlm.nih.gov] Postoperatively her pain improved, and imaging revealed resolution of cord compression.[ncbi.nlm.nih.gov]

  • Cryopyrin-Associated Periodic Syndrome

    Author information 1 a Division of Pediatric Rheumatology, Reference Center for Autoinflammatory Disorders CEREMAI, Bicêtre Hospital, University of Paris SUD, Le Kremlin Bicêtre[ncbi.nlm.nih.gov] The disease was inherited as an autosomal dominant trait.[ncbi.nlm.nih.gov] We herein report a case of a 75-year-old woman who presented with a low-grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis.[ncbi.nlm.nih.gov]

  • Ehlers-Danlos Syndrome

    Affected persons may also present with generalized body pain, fatigue, headaches, gastrointestinal pain, temporomandibular joint pain, dysmenorrhea, and vulvodynia.[ncbi.nlm.nih.gov] The paucity of patients described so far makes this disorder poorly defined at clinical level.[ncbi.nlm.nih.gov] DOMINANT EHLERS-DANLOS SYNDROME, TYPE V EHLERS-DANLOS SYNDROME, TYPE VI EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE[web.archive.org]

  • Camurati-Engelmann Syndrome

    Pediatrics 1984 ; 74 : 399 –405. 3 Crisp AJ, Brenton DP. Engelmann's disease of bone—a systemic disorder?[academic.oup.com] Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia.[ncbi.nlm.nih.gov] […] of pain.[ncbi.nlm.nih.gov]

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