Rare最新文献

{"title":"Congenital three-bone forearm – A rare disorder","authors":"J. Terrence Jose Jerome","doi":"10.1016/j.rare.2024.100020","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100020","url":null,"abstract":"<div><p>The article reports a unique case of a congenital three-bone forearm with ulnar polydactyly, elbow dislocation, and shoulder dysplasia. While there are various types of ulnar and radial longitudinal deficiencies, this case stands out and deserves mention in the literature and classification of congenital hand conditions.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100020"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000036/pdfft?md5=ec15e776be1c7ee9261ec35412a054c4&pid=1-s2.0-S2950008724000036-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139733325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The cross-sector model of care: A work design perspective","authors":"Annika Mertens ,&nbsp;Madison Kho ,&nbsp;Sharon K. Parker ,&nbsp;Gareth Baynam ,&nbsp;Sue Baker ,&nbsp;Kaila Stevens","doi":"10.1016/j.rare.2024.100049","DOIUrl":"10.1016/j.rare.2024.100049","url":null,"abstract":"<div><div>Diagnosing and coordinating care for children with rare diseases is challenging. Whilst the care coordination literature and practice has focused on coordination within the healthcare system, less attention has been given to the coordination of the children’s and families’ lives across sectors including health, education, disability care, financial welfare and social support. The Cross-sector Model of Care at the Rare Care Centre, Perth Children’s Hospital, Western Australia, is a novel approach towards a holistic care coordination for patients with rare and undiagnosed diseases and their families across these multiple agencies. With the aim to evaluate the work structures of the Cross-sector Model of Care, we apply the SMART Model of Work Design and conducted 18 interviews with all team members at the Rare Care Centre. The results from the qualitative analysis show that work at the Rare Care Centre seems to be well designed, providing team members with a work structure that includes stimulation, job mastery, autonomy, social support and tolerable work demands. We also identified enablers (i.e., upskilling between experts, flexible role adjustment, autonomy, weekly meetings, maximum number of patients seen) and challenges (i.e., unclear role expectations, high individual responsibility, growing external demand) of the existing work design. By identifying key factors that determine successful holistic care coordination, this research can assist practitioners aiming to create care coordination teams.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100049"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142654383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Living with rare genetic disease during the COVID-19 pandemic: A qualitative study of adolescents and young adults with Li-Fraumeni syndrome","authors":"Allison Werner-Lin ,&nbsp;Payal P. Khincha ,&nbsp;Ashley S. Thompson ,&nbsp;Camella Rising ,&nbsp;Alix Sleight ,&nbsp;Catherine Wilsnack ,&nbsp;Patrick Boyd ,&nbsp;Alexandra Feldman ,&nbsp;Rowan Forbes Shepherd ,&nbsp;Sharon A. Savage","doi":"10.1016/j.rare.2024.100034","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100034","url":null,"abstract":"<div><h3>Background</h3><p>The COVID-19 pandemic caused large-scale shifts in healthcare access and delivery that impacted the availability of routine care, such as cancer screening. Vulnerable populations, including those with rare cancer-prone genetic disease, faced considerable difficulties in managing their cancer risk. Studies characterizing the specific impacts of the pandemic on physical, mental, and emotional well-being for individuals with rare cancer-prone syndromes are emerging. This study used a patient-centered perspective to characterize how young adults with Li-Fraumeni syndrome (LFS), an inherited cancer predisposition syndrome with nearly 100 % lifetime risk of cancer, managed their physical and mental health during the first year of the COVID-19 pandemic.</p></div><div><h3>Methods</h3><p>This exploratory, qualitative cohort study was conducted between March and July of 2021 as part of the National Cancer Institute's Li-Fraumeni Study. Thirty adolescents and young adults (22 female, 8 male, median age 31 years, range 18–41) with a confirmed pathogenic <em>TP53</em> variant completed a semi-structured qualitative interview. An interdisciplinary team conducted Thematic Content Analysis on verbatim transcribed data.</p></div><div><h3>Results</h3><p>Most participants (22/30, 77 %) completed cancer screening during the first year of the pandemic, with a median perceived delay of 5 months (range 2–12 months) and with financial COVID-19-related burden (55 %). While participants reported satisfaction with telehealth-based services, they also reported challenges establishing new clinical relationships and a clear preference for in-person clinical care. Most participants reported negative or mixed impacts of COVID-19 on mental health (21/30, 70 %). Social network changes were reported by 22 (73 %), and almost all participants experienced negative or mixed emotions such as loss, grief, and isolation, to adaptations necessitated by COVID-19 in their social structure.</p></div><div><h3>Conclusions</h3><p>The COVID-19 pandemic had detrimental effects on the physical, emotional, and social health in young adults with Li-Fraumeni, including disruptions in care. These data highlight the need for integrative strategies to be in place prior to future pandemics to prioritize and support vulnerable populations, such as those with rare disease, and to manage unforeseen large-scale shifts in healthcare access and social structure.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100034"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000176/pdfft?md5=7f01362a794bd82c9af5daf628554d8d&pid=1-s2.0-S2950008724000176-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141240988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A unique collaborative model providing supportive and self-advocacy tools to the rare disease community","authors":"Juliette M. Harris ,&nbsp;Jacqui Fish ,&nbsp;Jared Griffin ,&nbsp;Gemma Hasnaoui ,&nbsp;Clare Stacey ,&nbsp;Neeti Ghali ,&nbsp;Fleur S. van Dijk","doi":"10.1016/j.rare.2024.100026","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100026","url":null,"abstract":"<div><p>The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS. The service consists of a team of medical specialists and genetic counsellors. The EDS service has strong ties with national and international EDS charities, and together they participate in working and strategy groups alongside patients and carers. Acquired funding for research means that the service contributes to international knowledge regarding diagnosis and management of rare, monogenic EDS types. As a result of being a highly specialised service, there are multiple points of contact with patients, providing frequent opportunities for feedback. Patient data, surveys and collaborative working have enabled the development not only of extensive information resources and self-advocacy tools for patients, but also guidelines for health care professionals on the best ways to support their rare disease patients. The main challenges faced by patients affected by rare disease and the importance of self-advocacy are discussed, with the highly specialised National EDS service and the patients seen in this service as an example. The recommendations from this unique collaborative model include eight specific domains of self-advocacy: increasing knowledge of rare disease, taking care of mental well-being, taking care of physical well-being including routine care, the development of good working relationships between patients and health care professionals, information accessibility, emergency preparedness, taking part in education and outreach, and involvement in research and feedback opportunities. The service aims to be an example of patient-centred innovation and progress, providing a patient-focused supportive model that can be adapted by the rare disease community and other health care professionals.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100026"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000097/pdfft?md5=c7a206d49d76eac84ec7334057e321cf&pid=1-s2.0-S2950008724000097-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140344687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare responsibility; Straddling the roles of both the student and the sick","authors":"Zainab Ahmed Alani","doi":"10.1016/j.rare.2024.100050","DOIUrl":"10.1016/j.rare.2024.100050","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100050"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142743039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Undeleting the voice of people with 22q11 deletion syndrome: A scoping review","authors":"Sophie Ayoub,&nbsp;Bernice S. Elger,&nbsp;Eva De Clercq","doi":"10.1016/j.rare.2024.100033","DOIUrl":"10.1016/j.rare.2024.100033","url":null,"abstract":"<div><h3>Background</h3><p>22q11 deletion syndrome (22q11DS) is the most common microdeletion syndrome in humans characterized by widely variable clinical manifestations. The resulting health challenges impact the well-being and quality of life of the affected individuals and their families. Although the opinion of formal and informal caregivers is of high importance, little literature discusses the perspective of the affected individuals themselves on what it means to live with a chronic condition like 22q11DS. The objective of this scoping review is to give a holistic view of the lived experiences of people diagnosed with 22q11DS by critically synthesizing the existing empirical literature on the topic.</p></div><div><h3>Methods</h3><p>We systematically searched six databases: PubMed, Embase, Scopus, CINAHL, Web of Science and Psychinfo and used Google Scholar to cover also grey literature. We included only empirical studies regardless of the methodology used and we followed the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR).</p></div><div><h3>Results</h3><p>This scoping review resulted in the analysis of 11 papers. Children, adolescents and older adults with 22q11DS were less represented in the retrieved studies compared to young adults. Two themes and various subthemes were identified. Regarding daily life challenges, supported independence is a subject commonly explored, but also the desire to be with others and knowledge around 22q11DS were widely discussed. Additionally, in this review, family support, societal care and professional healthcare services touch upon the social support and healthcare services. Multidisciplinary and transitional care were considered essential but lacking among medical institutions.</p></div><div><h3>Conclusions</h3><p>Further and more inclusive studies of individuals with 22q11DS are required to aid formal and informal caregivers in providing a more patient-centered support and thus to improve the overall well-being of people living with 22q11DS.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100033"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000164/pdfft?md5=d87c98a163370378594f9cfcf70adf01&pid=1-s2.0-S2950008724000164-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141038104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Transthyretin amyloid cardiomyopathy in France: A cross-sectional multi-centre study (333 patients)","authors":"Thibaud Damy ,&nbsp;Erwan Donal ,&nbsp;Olivier Lairez ,&nbsp;Jean-Christophe Eicher ,&nbsp;Mounira Karoubi ,&nbsp;Jean-Noël Trochu ,&nbsp;Jocelyn Inamo ,&nbsp;Gilbert Habib ,&nbsp;François Roubille ,&nbsp;Albert Hagège ,&nbsp;Flore Morio ,&nbsp;Eve Cariou ,&nbsp;Jérôme Adda ,&nbsp;Vincent Algalarrondo ,&nbsp;Agathe Coste ,&nbsp;Mathilde Bartoli ,&nbsp;Jérémie Rudant ,&nbsp;Lara Salvi ,&nbsp;Bruno Francou ,&nbsp;Anne Guiochon-Mantel ,&nbsp;Michel Slama","doi":"10.1016/j.rare.2024.100021","DOIUrl":"10.1016/j.rare.2024.100021","url":null,"abstract":"<div><h3>Aims</h3><p>We designed a two-part epidemiological study, an observatory for amyloid transthyretin amyloidosis (OBSAMYL). The first objective was to identify and count the number of patients diagnosed with ATTR amyloidosis in participating French centres. The second was to evaluate the use and safety profile of tafamidis meglumine in real-world settings.</p></div><div><h3>Methods</h3><p>This was a non-interventional descriptive retrospective multi-centre national study. A census was conducted to estimate the number of patients diagnosed with ATTR amyloidosis who were still alive at the time of the study (defined as 1 June 2017). Patients with ATTR amyloidosis were contacted by French centres from the French Rare Diseases network program. Patients aged ≥18 years with hereditary transthyretin-mediated amyloidosis (ATTRv) or wild-type transthyretin amyloidosis (ATTRwt) or a pathogenic transthyretin (TTR) mutation were eligible.</p></div><div><h3>Results</h3><p>Of the 38 centres (13 cardiology and 25 neurology) invited to participate, 22 (60.5%) (10 cardiology, 12 neurology) participated. There were 333 patients in cardiology census population. Before diagnosis one-fourth of the patients had cardiac decompensation, and one-fifth had a pacemaker. The 177 ATTRwt-CM patients were older (80.1 ± 7.0 years versus 64.2 ± 14.3 years; P &lt; 0.001), had a higher incidence of hypertension (51.4% versus 35.3%; P = 0.003), and a higher incidence of arrhythmia (45.8% versus 28.3%; P = 0.001) than 156 ATTRv patients. There were no differences in disease severity according to New York Heart Association classification. The ATTRv-mixed + CM group had more neurological symptoms (paraesthesia or dysesthesia, neuropathic pain, digestive disorders, and orthostatic hypotension) than the ATTRwt-CM group (P &lt; 0.001). Biopsies were performed on nearly 90% of patients with most of them being positive. The most common biopsy sites were salivary glands (137 biopsies) and cardiac tissues (77 biopsies). Tafamidis meglumine was administered to 174 cardiology patients, including 96 with ATTRv-mixed, 61 with ATTRwt-CM, and 17 with ATTRv-CM. Tafamidis meglumine was generally well tolerated. 18 adverse events, including 12 severe adverse events were reported in 174 patients as safety-related incidents. Tafamidis meglumine was likely responsible for five adverse events, one of which was severe.</p></div><div><h3>Conclusion</h3><p>This study of real-world clinical ATTR amyloidosis cases in France further elucidated the characteristics of and diagnostic approach to a cardiology patient population census of 333 patients. As of June 1, 2017, 177 ATTRwt-CM, 117 ATTRv-mixed, and 39 ATTRv-CM patients were alive. Our experience with tafamidis meglumine in the cardiology population confirmed its good tolerance.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100021"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000048/pdfft?md5=270dd53f5ce70acfa89b2ee33ce1363d&pid=1-s2.0-S2950008724000048-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139828828","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"First year results and insights from the Mexican Rare Disease Patient Registry","authors":"César E. Calvo Aspiros ,&nbsp;Claudia Gonzaga-Jauregui","doi":"10.1016/j.rare.2024.100046","DOIUrl":"10.1016/j.rare.2024.100046","url":null,"abstract":"<div><div>Rare diseases are defined based on their low-prevalence occurrence in the general population, individually affecting a small number of people, but having a major health and social impact collectively. It is estimated that at least 300 million people live with a rare disorder globally, however the exact numbers are not available for most countries. Patient registries are valuable tools that allow to better understand the prevalence of diseases in the population, the needs of patients and their health outcomes, and provide information for improved healthcare planning. The Mexican Rare Disease Patient Registry is an open, online, self-reporting registry study launched in 2022 to gather information about the prevalence of rare diseases in the Mexican population, the need for access to timely diagnosis, and the challenges faced by patients living with these conditions in the country. We report the analysis and results of the data collected for 144 patients that completed the questionnaire during the first year of the Registry. Results show that the mean time to clinical diagnosis for patients registered during the first year was 8 years, with an average of 6 medical specialists consulted. Additionally, while 71.53 % of registered patients reported having been informed that their condition could have a genetic origin, only 39.58 % were referred to a genetics specialist. Only 27.77 % of patients have had genetic or molecular testing performed, despite more than 80 % of patients reporting positive attitudes towards genetic testing shall it be offered or available to them. Through these initial analyses and data gathered, we are starting to elucidate relevant trends in access to diagnosis, care and treatment for patients living with rare and low-prevalence diseases in Mexico. These data will be useful for better health services planning and addressing the needs of patients and families living with these low-prevalence conditions in the country to ensure better outcomes and quality of life.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100046"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142416945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Noma (Cancrum oris) in Africa: A newly added neglected tropical disease","authors":"Ridwan Olamilekan Adesola ,&nbsp;Favour Akinfemi Ajibade ,&nbsp;Mahmud Ibrahim Agaie","doi":"10.1016/j.rare.2024.100031","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100031","url":null,"abstract":"<div><p>Noma is an overwhelming orofacial necrotizing disease and most cases occur in malnourished people, especially children. It is most common in tropical and subtropical regions of sub-Saharan Africa. Its high death rate, serious physical and psychological morbidity, stigmatization, and social discrimination are all contributing factors. Common public health interventions could prevent, control, and even eradicate noma. However, it is often disregarded when it comes to public health awareness, in-depth scientific research, and funding for prevention, treatment, and research. Noma was added to the list of neglected tropical diseases (NTDs) on December 15, 2023, as it satisfies all WHO criteria for this classification. This paper aims to provide an updated global health review on noma in Africa to reduce its burden on the continent. Healthcare professionals need to be more knowledgeable about noma, and systematic worldwide data collection and documentation regarding noma need to be encouraged to keep track of and eradicate the disease in Africa.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100031"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000140/pdfft?md5=8c1e6e48bf00a08798bf56a84218ce33&pid=1-s2.0-S2950008724000140-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140647535","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An expansion of the phenotype in individuals with SYNCRIP-Related Neurodevelopmental Disorder","authors":"Tooba Shafiq ,&nbsp;Joanna L. Feng ,&nbsp;Lindsay Phillips ,&nbsp;Kara Murias ,&nbsp;Marcia Ferguson ,&nbsp;Kristin Baranano ,&nbsp;Alaina Acchione ,&nbsp;Patricia Kipkemoi ,&nbsp;Collins Kipkoech ,&nbsp;Eunice Chepkemoi ,&nbsp;Amina Abubakar ,&nbsp;Charles Newton ,&nbsp;Celia van der Merwe ,&nbsp;Emily O’Heir ,&nbsp;Alice Galvin ,&nbsp;Aixa Gonzalez Garcia ,&nbsp;Alisha D’Souza ,&nbsp;Jennifer Stefanich ,&nbsp;Amelle Shillington ,&nbsp;Annabelle Tuttle ,&nbsp;Madelyn A. Gillentine","doi":"10.1016/j.rare.2024.100052","DOIUrl":"10.1016/j.rare.2024.100052","url":null,"abstract":"<div><div>Disruption of genes within the <em>HNRNP</em> gene family has been observed in neurodevelopmental and neurodegenerative diseases. The HNRNP-Related Neurodevelopmental Disorders (HNRNP-RNDDs), while each unique, have been recently described with similar clinical and molecular features across variation in several genes. However, the phenotypic information on these patients is still lacking. In this case series we aim to describe the phenotypes that are associated with SYNCRIP-Related Neurodevelopmental Disorder (SYNCRIP-RNDD). We describe in depth ten novel individuals and one previously published individual with mostly <em>de novo</em> and predicted damaging variants in <em>SYNCRIP</em>, consistent with a diagnosis of SYNCRIP-RNDD. We also describe previously published patients, many of which are from large cohort studies, as well as individuals from patient databases. Here, we expand the phenotype of SYNCRIP-RNDD beyond a generic neurodevelopmental disorder to a variable syndrome consisting of mild to borderline developmental delay/intellectual disability, speech and language delay, behavioral differences such as autism spectrum disorder, structural brain anomalies, hypotonia, and seizures. Inconsistent dysmorphic features were also observed, with the few recurrent findings including long eyelashes, mildly deep-set eyes, prominent ears, and thin or thick lips. This study increases our understanding of SYNCRIP-RNDD, as well as HNRNP-RNDDs broadly.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100052"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143096972","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}