Osteopenia and treatment in Trisomy 18 – pro

Tetrasomy 18 a rare genetic disorder caused by the presence of an extra copy of chromosome 18p. There is no cure for tetrasomy 18, and treatment is typically supportive and aimed at managing the symptoms. Most individuals met criteria for low bone density despite being relatively young, and are expected to inevitably progress to osteoporosis. Use of standard treatments for osteopenia is appropriate off-label.

Moreira A, Das H, Hasi-Zogaj M, Soileau B, Hill A, Bruder JM, Hale DE, Cody JD. Abnormal bone mineral content and density in people with tetrasomy 18p. Am J Med Genet A. 2019 Mar;179(3):417-422. doi: 10.1002/ajmg.a.61005. Epub 2019 Jan 13. PMID: 30637922.

https://www.chromosome18.org/wp-content/uploads/2024/01/Tet18p-handout.pdf, Accessed 9/5/2025

https://wp.uthscsa.edu/chromosome-18/resources/clinical-management-guides/tetrasomy-18p-treatment-and-surveillance-2/, Accesssed 9/5/2025

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