Kleefstra Syndrome: One Diagnosis to Remember

Introduction: Kleefstra Syndrome is a rare genetic neurodevelopmental syndrome characterized by the presence of multiple congenital defects.Patients present a large variety of clinical symptoms: psychomotor delay and speech development, intellectual disability, muscular hypotonia and characteristic facial dysmorphic features.The cause of the syndrome is submicroscopic deletion in the chromosomal region 9q34.3 or an intragenic mutation of the Euchromatin Histone Methyltransferase 1 (EHMT1) gene.Case Report: We present the case of a 3-year-old girl with psychomotor developmental delay and distinctive facial features in whom the diagnosis of the genetic syndrome was established at the age of 2 years by chromosome analysis using array-base comparative genomic hybridization (aCGH), which showed a pathogenic variant involving EHMT1.On physical examination, she had peculiar facies, with mild and nonspecific dysmorphia, and important hypotonia.She is currently doing progresses, supported by rehabilitation and with a multidisciplinary medical approach.Discussion: Early diagnosis is extremely important for children and their families as it allows quick establishment of an adequate surveillance program, which has a great impact on improving the quality of life and prognosis for this children.This case presentation aims to alert for the diagnose of Kleefstra syndrome, as a rare syndrome with non-characteristic manifestations.