{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,8]],"date-time":"2026-04-08T19:00:35Z","timestamp":1775674835223,"version":"3.50.1"},"reference-count":26,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2025,7,26]],"date-time":"2025-07-26T00:00:00Z","timestamp":1753488000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union","award":["PNRR-MR1-2022-12376346"],"award-info":[{"award-number":["PNRR-MR1-2022-12376346"]}]},{"name":"PNRR (National Recovery and Resilience Plan)","award":["PNRR-MR1-2022-12376346"],"award-info":[{"award-number":["PNRR-MR1-2022-12376346"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background: Perceptual analysis has highlighted that the voice characteristics of patients with rare congenital genetic syndromes differ from those of normophonic subjects. In this paper, we describe the voice phenotype, also called the phonotype, of patients with Crisponi\/cold-induced sweating syndrome type 1 (CS\/CISS1). Methods: We conducted an observational study at the Department of Life Sciences and Public Health, Rome. Thirteen patients were included in this study (five males; mean age: 16 years; SD: 10.63 years; median age: 12 years; age range: 6\u201344 years), and five were adults (38%). We prospectively recorded and analyzed acoustical features of three corner vowels [a], [i], and [u]. For perceptual analysis, the GIRBAS (grade, instability, roughness, breathiness, asthenia, and strain) scale was utilized. Acoustic analysis was performed through BioVoice software. Results: We found that CS\/CISS1 patients share a common phonotype characterized by articulation disorders and hyper-rhinophonia. Conclusions: This study contributes to delineating the voice of CS\/CISS1 syndrome. The phonotype can represent one of the earliest indicators for detecting rare congenital conditions, enabling specialists to reduce diagnosis time and better define a spectrum of rare and ultra-rare diseases.<\/jats:p>","DOI":"10.3390\/genes16080881","type":"journal-article","created":{"date-parts":[[2025,7,28]],"date-time":"2025-07-28T14:50:03Z","timestamp":1753714203000},"page":"881","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Do Rare Genetic Conditions Exhibit a Specific Phonotype? A Comprehensive Description of the Vocal Traits Associated with Crisponi\/Cold-Induced Sweating Syndrome Type 1"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2214-8597","authenticated-orcid":false,"given":"Federico","family":"Cal\u00e0","sequence":"first","affiliation":[{"name":"Department of Information Engineering, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5646-7406","authenticated-orcid":false,"given":"Elisabetta","family":"Sforza","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Surgery, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3104-958X","authenticated-orcid":false,"given":"Lucia","family":"D\u2019Alatri","sequence":"additional","affiliation":[{"name":"Unit for Ear, Nose and Throat Medicine, Department of Neuroscience, Sensory Organs and Chest, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7455-5656","authenticated-orcid":false,"given":"Lorenzo","family":"Frassineti","sequence":"additional","affiliation":[{"name":"Department of Information Engineering, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6364-9753","authenticated-orcid":false,"given":"Claudia","family":"Manfredi","sequence":"additional","affiliation":[{"name":"Department of Information Engineering, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7032-7779","authenticated-orcid":false,"given":"Donato","family":"Rigante","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4851-6124","authenticated-orcid":false,"given":"Marika","family":"Pane","sequence":"additional","affiliation":[{"name":"Centro Clinico Nemo Pediatrico, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8478-2799","authenticated-orcid":false,"given":"Serenella","family":"Servidei","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7616-7008","authenticated-orcid":false,"given":"Guido","family":"Primiano","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroscienze, Organi di Senso e Torace, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-6138","authenticated-orcid":false,"given":"Giangiorgio","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Independent Researcher, 09042 Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9128-8537","authenticated-orcid":false,"given":"Laura","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Institute for Genetic and Biomedical Research (IRGB), The National Research Council (CNR), Monserrato, 09042 Cagliari, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4089-637X","authenticated-orcid":false,"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6540-5952","authenticated-orcid":false,"given":"Antonio","family":"Lanat\u00e0","sequence":"additional","affiliation":[{"name":"Department of Information Engineering, University of Florence, 50139 Florence, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2661-4831","authenticated-orcid":false,"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Department of Woman and Child Health and Public Health, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,7,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"365","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<365::AID-AJMG8>3.0.CO;2-Q","article-title":"Autosomal recessive disorder with muscle contractions resembling neonatal tetanus, characteristic face, camptodactyly, hyperthermia, and sudden death: A new syndrome?","volume":"62","author":"Crisponi","year":"1996","journal-title":"Am. 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