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The affected individuals who survived the first critical years of life, develop cold\u2010induced sweating and scoliosis in early childhood. The disease is caused by variants in the\n                    <jats:italic>CRLF1<\/jats:italic>\n                    or in the\n                    <jats:italic>CLCF1<\/jats:italic>\n                    gene. Both proteins form a heterodimeric complex that acts on cells expressing the ciliary neurotrophic factor receptor (CNTFR). CS\/CISS belongs to the family of \u201cCNTFR\u2010related disorders\u201d showing a similar clinical phenotype. Recently, variants in other genes, including\n                    <jats:italic>KLHL7<\/jats:italic>\n                    ,\n                    <jats:italic>NALCN<\/jats:italic>\n                    ,\n                    <jats:italic>MAGEL2<\/jats:italic>\n                    and\n                    <jats:italic>SCN2A<\/jats:italic>\n                    , previously linked to other diseases, have been associated with a CS\/CISS\u2010like phenotype. Therefore, retinitis pigmentosa and Bohring\u2010Optiz syndrome\u2010like (\n                    <jats:italic>KLHL7<\/jats:italic>\n                    ), Congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome (\n                    <jats:italic>NALCN<\/jats:italic>\n                    ), Chitayat\u2010Hall\/Schaaf\u2010Yang syndrome (\n                    <jats:italic>MAGEL2<\/jats:italic>\n                    ), and early infantile epileptic encephalopathy\u201011 syndrome (\n                    <jats:italic>SCN2A<\/jats:italic>\n                    ) all share an overlapping phenotype with CS\/CISS, especially in the neonatal period. This review aims to summarize the existing literature on CS\/CISS, focusing on the current state of differential diagnosis, pathogenesis and treatment concepts in order to achieve an accurate and rapid diagnosis. This will improve patient management and enable specific treatments for the affected individuals.\n                  <\/jats:p>","DOI":"10.1111\/cge.13639","type":"journal-article","created":{"date-parts":[[2019,9,9]],"date-time":"2019-09-09T07:50:08Z","timestamp":1568015408000},"page":"209-221","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":20,"title":["Crisponi\/cold\u2010induced sweating syndrome: Differential diagnosis, pathogenesis and treatment concepts"],"prefix":"10.1111","volume":"97","author":[{"given":"Insa","family":"Buers","sequence":"first","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Persico","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica Consiglio Nazionale delle Ricerche  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lara","family":"Sch\u00f6ning","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yvonne","family":"Nitschke","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9677-880X","authenticated-orcid":false,"given":"Maja","family":"Di Rocco","sequence":"additional","affiliation":[{"name":"Unit of Rare Diseases, Department of Pediatrics Gaslini Institute  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Loi","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica Consiglio Nazionale delle Ricerche  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Puneet Kaur","family":"Sahi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Maulana Azad Medical College and Lok Nayak Hospital  New Delhi India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gulen Eda","family":"Utine","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Department of Pediatrics Hacettepe University Faculty of Medicine  Ankara Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilge","family":"Bayraktar\u2010Tanyeri","sequence":"additional","affiliation":[{"name":"Department of Neonatology Bezmialem Vakif University  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health, Center for Rare Diseases and Birth Defects, Institute of Pediatrics Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Universit\u00e0 Cattolica del Sacro Cuore  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giangiorgio","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Clinica Sant'Anna  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9128-8537","authenticated-orcid":false,"given":"Laura","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica Consiglio Nazionale delle Ricerche  Cagliari Italy"},{"name":"Department of Biomedical Science University of Sassari  Sassari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,9,16]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20292"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30536"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/516843"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2010.03630.x"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)91805-6"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2010.02.028"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/346120"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/513608"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.253"},{"key":"e_1_2_12_12_1","volume-title":"Cold\u2010Induced Sweating Syndrome Including Crisponi Syndrome. 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