Acta Scientific Paediatrics (ASPE)

Case Report Volume 7 Issue 5

Kleefstra Syndrome: One Diagnosis to Remember

Diana Henriques Pinto1*, Rosário Cunha1 Sara Sofia S. Rodrigues1, Joana Monteiro1 and Fátima Santos2

1Pediatrics Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal
2Pediatrics Department, Centro Hospitalar de Vila Nova de Gaia e Espinho, Vila Nova de Gaia, Portugal

*Corresponding Author: Diana Henriques Pinto, Pediatrics Department, Centro Hospitalar Entre Douro e Vouga, Santa Maria da Feira, Portugal.

Received: February 27, 2024; Published: April 06, 2024


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.

Keywords: Kleefstra syndrome; 9q34; Global Developmental Delay; Autism Spectrum Disorder; Childhood Hypotonia.


  1. Kleefstra , et al. “Kleefstra Syndrome.” 2010 Oct 5 [updated 2023 Jan 26]. GeneReviews®. University of Washington, Seattle (2010): 1993-2023.
  2. Haseley , et al. “Kleefstra syndrome: Impact on parents”. Disability and Health Journal 14 (2021): 101018.
  3. Willemsen , et al. “Update on Kleefstra Syndrome”. Molecular Syndromology 2 (2011): 202-212.
  4. Marchese G., et al. “Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report”. Neurological Sciences 37 (2016): 829-831.
  5. Yamada A., et al. “Biochemical validation of EHMT1 missense mutations in Kleefstra syndrome”. Journal of Human Genetics (2018).
  6. Kohli , et al. “Shone’s complex in a patient with chromosome 9q34.3 deletion (Kleefstra syndrome)”. Cardiology in the Young Age (2018).
  7. Alonso A., et al. “Defensive and offensive behaviours in a Kleefstra syndrome mouse model”. Animal Cognition 26 (2023): 1131-1140.


Citation: Diana Henriques Pinto., et al. “Kleefstra Syndrome: One Diagnosis to Remember".Acta Scientific Paediatrics 7.5 (2024): 03-05.


Copyright: © 2024 Diana Henriques Pinto., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Acceptance rate32%
Acceptance to publication20-30 days

Indexed In

News and Events

  • Certification for Review
    Acta Scientific certifies the Editors/reviewers for their review done towards the assigned articles of the respective journals.
  • Submission Timeline for Upcoming Issue
    The last date for submission of articles for regular Issues is July 30, 2024.
  • Publication Certificate
    Authors will be issued a "Publication Certificate" as a mark of appreciation for publishing their work.
  • Best Article of the Issue
    The Editors will elect one Best Article after each issue release. The authors of this article will be provided with a certificate of "Best Article of the Issue"
  • Welcoming Article Submission
    Acta Scientific delightfully welcomes active researchers for submission of articles towards the upcoming issue of respective journals.

Contact US