biostudies-literatureUnknown9(10)Yu HWiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. Here, we report a five-year-old boy who was diagnosed with WDSTS based on the results of Trio-based whole-exome sequencing and an assessment of his clinical features. He had intellectual disability, short stature, hirsutism, and atypical facial features, including a low hairline, down-slanting palpebral fissures, hypertelorism, long eyelashes, broad and arching eyebrows, synophrys, a bulbous nose, a broad nasal tip, and dental/oral anomalies. However, not all individuals wChildren (Basel, Switzerland)1545https://www.ebi.ac.uk/biostudies/studies/S-EPMC9600770biostudies-literatureWiedemann-Steiner Syndrome: Case Report and Review of Literature.PMC9600770Zhang GYu SWu WYu HfalseWiedemann-Steiner Syndrome: Case Report and Review of Literature.Wiedemann-Steiner syndrome (WDSTS) is an autosomal dominant disorder with a broad and variable phenotypic spectrum characterized by intellectual disability, prenatal and postnatal growth retardation, hypertrichosis, characteristic facial features, behavioral problems, and congenital anomalies involving different systems. Here, we report a five-year-old boy who was diagnosed with WDSTS based on the results of Trio-based whole-exome sequencing and an assessment of his clinical features. He had intellectual disability, short stature, hirsutism, and atypical facial features, including a low hairline, down-slanting palpebral fissures, hypertelorism, long eyelashes, broad and arching eyebrows, synophrys, a bulbous nose, a broad nasal tip, and dental/oral anomalies. However, not all individuals w2022-01-01T00:00:00Z2022 Oct2026-04-08T18:28:01.715Z2025-04-19T04:23:07.77ZS-EPMC96007703629148110.3390/children9101545