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Review
. 2021 Jun;19(3):338-346.
doi: 10.1007/s11914-021-00674-y. Epub 2021 Apr 8.

Current Analysis of Skeletal Phenotypes in Down Syndrome

Jared R Thomas  1 , Randall J Roper  2
Affiliations
Review

Current Analysis of Skeletal Phenotypes in Down Syndrome

Jared R Thomas et al. Curr Osteoporos Rep. 2021 Jun.

Abstract

Purpose: Down syndrome (DS) is caused by trisomy 21 (Ts21) and results in skeletal deficits including shortened stature, low bone mineral density, and a predisposition to early onset osteoporosis. Ts21 causes significant alterations in skeletal development, morphology of the appendicular skeleton, bone homeostasis, age-related bone loss, and bone strength. However, the genetic or cellular origins of DS skeletal phenotypes remain unclear.

Recent findings: New studies reveal a sexual dimorphism in characteristics and onset of skeletal deficits that differ between DS and typically developing individuals. Age-related bone loss occurs earlier in the DS as compared to general population. Perturbations of DS skeletal quality arise from alterations in cellular and molecular pathways affected by the overexpression of trisomic genes. Sex-specific alterations occur in critical developmental pathways that disrupt bone accrual, remodeling, and homeostasis and are compounded by aging, resulting in increased risks for osteopenia, osteoporosis, and fracture in individuals with DS.

Keywords: Bone mineral density; Down syndrome; Osteopenia; Osteoporosis; Trisomy 21.

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Conflict of interest statement

Conflict of Interest

The authors declare that they have no conflict of interest.

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