Genetic craniofacial disorders affecting the dentition

Yong Hee Patricia Chun, Paul H. Krebsbach, James P. Simmer

Research output: Chapter in Book/Report/Conference proceedingChapter


Genetic disorders that alter early events in tooth development may be limited in their phenotypes to the dentition or compromise the development of other ectodermal organs, as in syndromes. This chapter provides a concise overview of dental genetic malformations that offer early evidence of undiagnosed syndromic or systemic conditions of bone and mineral. The most common disorder with dentin malformations is autosomal dominant (AD) osteogenesis imperfecta (OI), which is caused by defects in the genes that encode type I collagen. Metabolic diseases of bone are disorders of bone remodeling that characteristically involve the entire skeleton, and are often manifest in the oral cavity, which can lead to the diagnosis of the underlying systemic disease. Hypophosphatasia (HPP) is caused by loss of function mutation of the skeletal alkaline phosphatase. The classic oral presentation of childhood hypophosphatasia is premature loss of fully-rooted deciduous teeth.

Original languageEnglish (US)
Title of host publicationPrimer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism
Number of pages7
ISBN (Electronic)9781119266594
ISBN (Print)9781119266563
StatePublished - Jan 1 2018


  • Dentition
  • Genetic craniofacial disorders
  • Hypophosphatasia
  • Metabolic bone diseases
  • Oral cavity
  • Oral manifestations

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology


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