Wiedemann-Steiner syndrome is caused by mutations in the KMT2A gene (11q23.3). It might be inherited autosomal dominant or appear de novo. Features described in the syndrome include developmental delay, short stature, hypotonia, hypertrichosis, facial dysmorphic features, and intellectual disability.

Case Report:
A boy aged 5.5 months was admitted to the Genetics Outpatient Clinic due to delayed psychomotor development. Microsomia, hypotonia, joint laxity, and facial dysmorphic features were noticed. No genomic imbalance was found in microarray, based on comparative genomic hybridization. The c.3528G>T variant of the KMT2A gene was identified on chromosome 11 of the missense type in next-generation sequencing. The reasons for phenotypic features were confirmed in genetic research.

Wiedemann-Steiner syndrome has a variable clinical phenotype. There is a strong need to pay attention to phenotypic features that may suggest the syndrome and refer patients for appropriate genetic diagnostics.

Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: 605130: 8 April 2020. World Wide Web URL: (access: 2022.12.20).
Orphanet: an online database of rare diseases and orphan drugs. Copyright, INSERM 1997. Available at (access: 2022.12.20).
Wiedemann HR, Kunze J, Grosse FR, et al. A syndrome of abnormal facies, short stature, and psychomotor retardation. In: Atlas of Clinical Syndromes: A Visual Aid to Diagnosis for Clinicians and Practicing Physicians, 2nd ed. London: Wolfe Publishing Ltd.; 1989. p. 198–199.
Steiner CE, Marques AP. Growth deficiency, mental retardation and unusual facies. Clin Dysmorphol. 2000;9(2):155–6.
Jones WD, Dafou D, McEntagart M, et al. De novo mutations in MLL cause Wiedemann-Steiner syndrome. Am J Hum Genet. 2012;91(2):358–64.
Miyake N, Tsurusaki Y, Koshimizu E, et al. Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations. Clin Genet. 2016;89(1):115–9.
Di Fede E, Massa V, Augello B, et al. Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann-Steiner and Rubinstein-Taybi syndromes. Eur J Hum Genet. 2021;29(1):88–98.
Jinxiu L, Shuimei L, Ming X, et al. Wiedemann-Steiner syndrome with a de novo mutation in KMT2A: A case report. Medicine (Baltimore). 2020;99(16):e19813.
Chan AJS, Cytrynbaum C, Hoang N, et al. Expanding the neurodevelopmental phenotypes of individuals with de novo KMT2A variants. NPJ Genom Med. 2019;4:9.
Hirst L, Evans R. Wiedemann-Steiner syndrome: A case report. Clin Case Rep. 2021;9(3):1158–1162.
Aggarwal A, Rodriguez-Buritica DF, Northrup H. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature. Eur J Med Genet. 2017;60(6):285–288.
Grangeia A, Leão M, Moura CP. Wiedemann-Steiner syndrome in two patients from Portugal. Am J Med Genet A. 2020;182(1):25–28.
Sheppard SE, Campbell IM, Harr MH, et al. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. Am J Med Genet A. 2021;185(6):1649–1665.
Mendoza C. Physical Therapy management of Wiedemann-Steiner syndrome from birth to 3 years. Pediatr Phys Ther. 2020;32(3):E64-E69.
Stoyle G, Banka S, Langley C, et al. Growth hormone deficiency as a cause for short stature in Wiedemann-Steiner syndrome. Endocrinol Diabetes Metab Case Rep. 2018;2018:18–0085.
Castiglioni S, Di Fede E, Bernardelli C, et al. KMT2A: Umbrella gene for multiple diseases. Genes (Basel). 2022;13(3):514.
Fallah MS, Szarics D, Robson CM, et al. Impaired regulation of histone methylation and acetylation underlies specific neurodevelopmental disorders. Front Genet. 2021;11:613098.
Ramirez-Montaño D, Pachajoa H. Wiedemann-Steiner syndrome with a novel pathogenic variant in KMT2A: a case report. Colomb Med. 2019;50(1):40–45.
Yu H, Zhang G, Yu S, Wu W. Wiedemann-Steiner syndrome: case report and review of literature. Children (Basel). 2022;9(10):1545.
Baer S, Afenjar A, Smol T, et al. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases. Clin Genet. 2018;94(1):141–152. https://
Kaplanis J, Ide B, Sanghvi R, et al. Genetic and chemotherapeutic influences on germline hypermutation. Nature. 2022;605(7910):503–508.
Sun Y, Hu G, Liu H, et al. Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. Am J Med Genet A. 2017;173(2):510–514.
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