Down syndrome as a cause of abnormalities in the craniofacial region: A systematic literature review

Adv Clin Exp Med. 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785.


Down syndrome (DS) is the most often diagnosed chromosomal disorder in newborns. The incidence is 1:792 live births. The article describes the irregularities and characteristics found in trisomy 21, which greatly affect the functioning of the stomatognathic system. The most significant disorders include the following: false macroglossia, muscular hypotonia and gothic palate. These abnormalities affect articulation, breathing, food intake, and swallowing. We analyzed the morphological characteristics of the craniofacial region in children with DS based on the current literature review. The following databases were used for the analysis: MEDLINE (via PubMed), Scopus, Infona, and Dentistry & Oral Sciences Source. In the course of the study, 199 pieces of literature were analyzed; the analysis also included 18 articles on children and adults with DS. It also took into account the structure of the palate, dental and skeletal defects, size of the tongue, muscular hypotonia, and temporomandibular joint dysfunction. Down syndrome is still a current subject of research. Although macroglossia, hypotonia, malocclusion, and temporomandibular joint abnormalities are not features exclusive to DS, numerous dysfunctions and parafunctions as well as retarded psychomotor development greatly complicate the treatment. Therefore, interdisciplinary treatment of patients with trisomy 21 and early treatment in the first months of life with the use of the Castillo-Morales plate are very important, as they ensure better adaptation to the subsequently used apparatus and reduce the risk of disorders of the stomatognathic system.

Keywords: Castillo-Morales plate; Down syndrome; dental defects; false macroglossia; hypotonia.

Publication types

  • Systematic Review

MeSH terms

  • Down Syndrome* / physiopathology
  • Facial Muscles / physiopathology
  • Humans
  • Infant
  • Infant, Newborn
  • Macroglossia* / physiopathology
  • Muscle Hypotonia / physiopathology
  • Tongue
  • Trisomy