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JRPMS Vol 7, No 1, March 2023, p.8-17

doi: 10.22540/JRPMS-07-008


Review Article

A dental approach to hereditary and congenial metabolic bone diseases

Afroditi A. Rallatou1,2, Sophia D. Sakka3,4, Christos Zafeiris5

  1. Postgraduate Program “Metabolic Bone Diseases”, National and Kapodistrian University of Athens, Medical School, Athens, Greece
  2. Private practice Dentistry, Athens, Greece
  3. Department of Paediatric Endocrinology and Diabetes, Evelina London Children’s Hospital, Guy’s and St Thomas Foundation Trust, London, UK
  4. GKT School of Medical Education, King’s College London Faculty of Life Sciences and Medicine, London, UK
  5. Laboratory of research Musculoskeletal system diseases, School of Medicine, University of Athens, Hospital KAT, Greece

Keywords: Congenial, Hereditary, Metabolic bone disease, Oral manifestation, Teeth


Bone growth requires a balance of minerals such as calcium, phosphorus, and factors of bone biomineralization. The difference between jaws’ bones and the rest of the bones is the existence of teeth. Although the development of teeth has no similarities with bones, the biomineralization of both is happening at the same time. Consequently, the disturbances in the metabolism of minerals and peptides which participate in osteogenesis, have an impact on teeth, jaws, periodontal tissues, and oral mucosa. The hereditary and congenial metabolic bone diseases are being analysed and classified based on their genetic profile and oral manifestations. Regarding the categories, there are metabolic bone diseases caused by genetic mutations, like hereditary rickets, and others caused by chromosomal abnormalities, such as Down syndrome. In addition, many disorders are provoked by enzymatic dysfunction, disturbances of creation of polypeptide chain, while others have an unknown explanation. Many oral manifestations are related with problems in the dentition, oral mucosa, periodontal tissues, and jaws. Especially some syndromes present with cleft lip and palate. To conclude, there is a big variety of dental symptoms of these disorders, while the most frequent are the delayed eruption of teeth, oligodontia, a dysplastic enamel and dentine.