The first study of 3-M Syndrome in Jordan and Literature Review

Pharmacy Practice

  • Aseel Alkhawaldeh1School of Pharmacy, The University of Jordan, Amman, Jordan.
  • Ahmad R. Alsayed2Department of Clinical Pharmacy and Therapeutics, Faculty of Pharmacy, Applied Science Private University, Amman 11937, Jordan.
  • Rajaa Daghash2Department of Clinical Pharmacy and Therapeutics, Faculty of Pharmacy, Applied Science Private University, Amman 11937, Jordan.
  • Jumana Albaramiki3School of Medicine, The University of Jordan, Amman, Jordan.
  • Dana Shibli4Jordan University Hospital, The University of Jordan, Amman, Jordan.
  • Sara Abudahab5School of Pharmacy, Virginia Commonwealth University, USA.
  • Nancy Hakooz1School of Pharmacy, The University of Jordan, Amman, Jordan.

Volume 22 Issue 1 Pages 1-4

DOI: 10.18549/PharmPract.2024.1.2908

Abstract

The prevalence of 3-M syndrome remains unclear owing to its rarity and the limited number of reported cases in the medical literature. To date, approximately 100 cases of the disorder have been documented in MedlinePlus Genetics. Here, we present the first case study report from Jordan of a boy diagnosed with 3-M syndrome at 9 months of age via karyotyping. The patient exhibited distinct facial features, severe prenatal and postnatal growth retardation, and normal mental development. As rare genetic autosomal recessive mutations are common where consanguineous marriages are prevalent, raising awareness of such rare genetic diseases is critical. This paper aims to provide a case report on 3-M syndrome and a literature review.

Keywords

  • 3-m syndrome
  • rare genetic diseases
  • autosomal recessive disease
  • genetics
  • Jordan
Pharmacy Practice

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