{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:05:48Z","timestamp":1760144748414,"version":"build-2065373602"},"reference-count":170,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T00:00:00Z","timestamp":1716163200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Macrocephaly, characterized by an abnormally large head circumference, often co-occurs with distinctive finger changes, presenting a diagnostic challenge for clinicians. This review aims to provide a current synthetic overview of the main acquired and genetic etiologies associated with macrocephaly and finger changes. The genetic cause encompasses several categories of diseases, including bone marrow expansion disorders, skeletal dysplasias, ciliopathies, inherited metabolic diseases, RASopathies, and overgrowth syndromes. Furthermore, autoimmune and autoinflammatory diseases are also explored for their potential involvement in macrocephaly and finger changes. The intricate genetic mechanisms involved in the formation of cranial bones and extremities are multifaceted. An excess in growth may stem from disruptions in the intricate interplays among the genetic, epigenetic, and hormonal factors that regulate human growth. Understanding the underlying cellular and molecular mechanisms is important for elucidating the developmental pathways and biological processes that contribute to the observed clinical phenotypes. The review provides a practical approach to delineate causes of macrocephaly and finger changes, facilitate differential diagnosis and guide for the appropriate etiological framework. Early recognition contributes to timely intervention and improved outcomes for affected individuals.<\/jats:p>","DOI":"10.3390\/ijms25105567","type":"journal-article","created":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T11:06:41Z","timestamp":1716203201000},"page":"5567","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Macrocephaly and Finger Changes: A Narrative Review"],"prefix":"10.3390","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7649-5308","authenticated-orcid":false,"given":"Cecilia","family":"Lazea","sequence":"first","affiliation":[{"name":"1st Department of Pediatrics, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy Cluj-Napoca, 400370 Cluj-Napoca, Romania"},{"name":"1st Pediatrics Clinic, Emergency Pediatric Clinical Hospital, 400370 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2476-9706","authenticated-orcid":false,"given":"Romana","family":"Vulturar","sequence":"additional","affiliation":[{"name":"Department of Molecular Sciences, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy Cluj-Napoca, 400349 Cluj-Napoca, Romania"},{"name":"Cognitive Neuroscience Laboratory, University Babes-Bolyai, 400015 Cluj-Napoca, Romania"},{"name":"Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, F\u0103getului St., 400497 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adina","family":"Chi\u0219","sequence":"additional","affiliation":[{"name":"Department of Molecular Sciences, \u201cIuliu Ha\u021bieganu\u201d University of Medicine and Pharmacy Cluj-Napoca, 400349 Cluj-Napoca, Romania"},{"name":"Cognitive Neuroscience Laboratory, University Babes-Bolyai, 400015 Cluj-Napoca, Romania"},{"name":"Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, F\u0103getului St., 400497 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Svetlana","family":"Encica","sequence":"additional","affiliation":[{"name":"Department of Pathology, \u201cNiculae Stancioiu\u201d Heart Institute Cluj-Napoca, 19-21 Calea Mo\u021bilor St., 400001 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melinda","family":"Horvat","sequence":"additional","affiliation":[{"name":"Department of Infectious Diseases and Epidemiology, The Clinical Hospital of Infectious Diseases, \u201cIuliu Hatieganu\u201d University of Medicine and Pharmacy Cluj-Napoca, 400348 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Belizna","sequence":"additional","affiliation":[{"name":"UMR CNRS 6015, INSERM U1083, University of Angers, 49100 Angers, France"},{"name":"Internal Medicine Department Clinique de l\u2019Anjou, Vascular and Coagulation Department, University Hospital Angers, 49100 Angers, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5735-3929","authenticated-orcid":false,"given":"Laura-Otilia","family":"Damian","sequence":"additional","affiliation":[{"name":"Association for Innovation in Rare Inflammatory, Metabolic, Genetic Diseases INNOROG, 30E, F\u0103getului St., 400497 Cluj-Napoca, Romania"},{"name":"Department of Rheumatology, Center for Rare Musculoskeletal Autoimmune and Autoinflammatory Diseases, Emergency Clinical County Hospital Cluj, 400006 Cluj-Napoca, Romania"},{"name":"CMI Reumatologie Dr. Damian, 400002 Cluj-Napoca, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,5,20]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"a005504","DOI":"10.1101\/mcs.a005504","article-title":"Deciphering congenital anomalies for the next generation","volume":"6","author":"Wojcik","year":"2020","journal-title":"Cold Spring Harb. 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