Hereditary Diseases of Orthopedic Interest

Abstract

Musculoskeletal problems in patients with hereditary disorders are common, although their clinical severity can vary significantly, and their transmission can be autosomal dominant, autosomal recessive, or X-linked; similarly, their estimated prevalence is variable.

Depending on the disorder, some musculoskeletal problems are present at birth, while some others become evident later in life; the neuromotor development can be normal or delayed, and some disorders are associated with mental retardation.

Specific orthopedic problems are typical for each type of disorder; important and common manifestations of orthopedic interest are spine deformity and instability, chest deformity, upper and lower extremity deformity, joint contractures, and tumor; moreover, a variable and heterogeneous panel of extra-skeletal signs can complete the clinical picture of each disorder.

Musculoskeletal problems can significantly impact the quality of life of affected individuals, and timely surgical treatment is usually needed. However, the timing and outcome of surgical procedures vary according to the type of musculoskeletal problem and its severity. Life expectancy in patients with hereditary disorders can be normal or reduced.

This chapter describes the clinical manifestations and treatment principles for hereditary disorders of interest to the orthopedist.