Pykaliuk V. S., Kolomyiets D. L., Kolomyiets L. I.

EMBRYOGENESIS OF THE NASAL CAVITY AND MECHANISMS OF DEVELOPMENT OF ISOLATED AND SYNDROMIC CRANIOFACIAL ANOMALIES (LITERATURE REVIEW)

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Pykaliuk V. S., Kolomyiets D. L., Kolomyiets L. I.

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LITERATURE REVIEWS

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Scientific article

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Morphogenesis of the nasal cavity represents one of the most complex and highly coordinated processes of human prenatal development, driven by the integrated interaction of molecular, genetic, cellular, and tissue-specific mechanisms. The development of the structures of the midface occurs throughout the embryonic (the 4th to 8th weeks) and fetal (from the 9th week of gestation onward) periods and involves the sequential formation of the olfactory placodes, invagination of the nasal pits, development of the primary and secondary nasal cavities, choanae, nasal septum, nasal conchae, and nasal meatuses, followed by the differentiation of osseous, cartilaginous, and mucosal components. The spatiotemporal coordination of these developmental events is regulated by interactions among surface ectoderm, mesenchyme, and neural crest cells under the control of multiple signaling pathways, including SHH, FGF, BMP, WNT, TGF-β, and Notch, together with other key regulators of craniofacial patterning that govern cell proliferation, migration, differentiation, and the proper morphogenesis of the nasal cavity. Disruption of the regulation of embryonic development at any stage of morphogenesis may result in a broad spectrum of congenital craniofacial anomalies, which may occur either as isolated malformations or as components of genetically determined syndromes. Isolated anomalies include orofacial clefts, nasal septal deviation, choanal atresia, hypoplasia of individual nasal structures, and other localized defects arising from disturbances in regional developmental mechanisms. Syndromic forms are characterized by complex involvement of craniofacial structures and are associated with chromosomal abnormalities, neurocristopathies, or mutations in genes regulating craniofacial development, including FGFR2, FGFR3, CHD7, TCOF1, EFNB1, TWIST1, and others. The most common syndromic conditions include Crouzon syndrome, Apert syndrome, Treacher Collins syndrome, CHARGE syndrome, as well as trisomy 13 and trisomy 21. The resulting morphological abnormalities include premature craniosynostosis, midfacial hypoplasia, narrowing or deformity of the nasal cavity, impaired development of the choanae and nasal conchae, leading to altered upper airway aerodynamics, impaired nasal breathing, olfactory dysfunction, and an increased risk of respiratory complications during the neonatal period and early childhood. This review summarizes current evidence on the embryogenesis of the nasal cavity, the molecular and genetic mechanisms underlying its development, and the pathogenesis of isolated and syndromic craniofacial anomalies. Particular emphasis is placed on the role of neural crest cells, intercellular signaling pathways, and genetic factors in the development of congenital malformations affecting the midface. The integration of current knowledge regarding the mechanisms of normal and abnormal nasal cavity morphogenesis provides a theoretical basis for further fundamental and clinical investigations aimed at improving early diagnosis, prevention, and personalized management of congenital craniofacial malformations.

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Publication of the article:

«Bulletin of problems biology and medicine», 2026 Issue 3, 182, 118-125 pages, index UDC 616.211-007:616.714/.716-007.21-056.7

DOI:

10.29254/2077-4214-2026-3-182-118-125