_____________________________________________________________________________________________________ *Corresponding author: E-mail: kristi.aleksi@outlook.com; J. Adv. Med. Med. Res., vol. 35, no. 3, pp. 46-50, 2023 Journal of Advances in Medicine and Medical Research Volume 35, Issue 3, Page 46-50, 2023; Article no.JAMMR.96123 ISSN: 2456-8899 (Past name: British Journal of Medicine and Medical Research, Past ISSN: 2231-0614, NLM ID: 101570965) Sotos Syndrome Type 1 and Type 2: Case Series of 4 Pediatric Patients with Variants in NSD1 and NFIX Genes Afërdita Tako Kumaraku a,b , Kristi Aleksi c* , Aida Bushati a,b , Armand Shehu a,b , Sonila Tomori a , Laurant Kollçaku a , Agim Gjikopulli a , Renald Meçani a and Paskal Cullufi a a Service of Pediatrics, Mother Teresa University Hospital Center, Tirana, Albania. b Department of Pediatrics, Faculty of Medicine, University of Medicine, Tirana, Albania. c Faculty of Medicine, University of Medicine, Tirana, Albania. Authors’ contributions This work was carried out in collaboration among all authors. All authors read and approved the final manuscript. Article Information DOI: 10.9734/JAMMR/2023/v35i34953 Open Peer Review History: This journal follows the Advanced Open Peer Review policy. Identity of the Reviewers, Editor(s) and additional Reviewers, peer review comments, different versions of the manuscript, comments of the editors, etc are available here: https://www.sdiarticle5.com/review-history/96123 Received: 01/12/2022 Accepted: 03/02/2023 Published: 08/02/2023 ABSTRACT Sotos syndrome is a rare genetic disorder with autosomal dominant inheritance, marked by overgrowth with macrocephaly, a distinctive facial appearance, and intellectual impairment. It occurs due to pathogenic variants encompassing the NSD1 gene. In addition, Sotos-like syndromes are also recognized, including Malan syndrome, known as Sotos syndrome type 2, which is caused by variants encompassing the NFIX gene. Herein we present a series of 3 pediatric patients diagnosed with Sotos syndrome type 1 and 1 patient with Sotos syndrome type 2 and discuss their genotypes and phenotypes. Clinical Practice Article