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Genetic diseases with rheumatic manifestations in children
1Division of Rheumatology, Children's Hospital Medical Center, Cincinnati, OH 45229-3039, USA.
Insights
Many childhood musculoskeletal abnormalities stem from genetic defects in connective tissue proteins. This review covers collagen and fibrillin mutations, chromosomal anomalies, and metabolic disorders causing these conditions.
Area of Science:
- Pediatric Rheumatology
- Medical Genetics
- Connective Tissue Diseases
Background:
- Musculoskeletal abnormalities in childhood often indicate underlying nonrheumatic diseases.
- A substantial number of these disorders are genetically determined, frequently involving structural connective tissue proteins.
- Key examples include collagen defects (spondyloepiphyseal dysplasias, Ehlers-Danlos syndrome) and fibrillin defects (Marfan's syndrome).
Purpose of the Study:
- To review clinical clues for identifying nonrheumatologic musculoskeletal diseases in children.
- To summarize recent advancements in understanding the genetic basis of these disorders.
- To highlight the role of connective tissue defects and metabolic diseases.
Main Methods:
- Literature review of genetic and clinical aspects of nonrheumatologic musculoskeletal disorders.
- Analysis of common genetic mutations affecting collagen and fibrillin.
- Discussion of chromosomal anomalies and metabolic conditions associated with musculoskeletal findings.
Main Results:
- Identified genetic defects, particularly in collagen and fibrillin, as primary causes of specific syndromes.
- Highlighted chromosomal anomalies and metabolic diseases contributing to musculoskeletal issues.
- Emphasized the importance of clinical clues in diagnosing these diverse conditions.
Conclusions:
- Genetic factors, especially connective tissue protein defects, are central to many childhood musculoskeletal abnormalities.
- Metabolic and chromosomal disorders also play a significant role.
- Understanding the genetic basis aids in clinical diagnosis and management.
Abstract:
Many nonrheumatic diseases of childhood present with musculoskeletal abnormalities. A significant proportion of these disorders have a genetic basis, many involving defects in structural proteins of the connective tissue. Chief among these are collagen mutations resulting in spondyloepiphyseal dysplasias and Ehlers-Danlos syndrome, as well as fibrillin defects associated with Marfan's syndrome. A variety of other chromosomal anomalies are associated with musculoskeletal abnormalities, and may result from as yet unidentified connective tissue defects. In addition, metabolic diseases may result in findings of hyper- or hypomobility, or carpal tunnel syndrome. Helpful clinical clues to identify nonrheumatologic musculoskeletal disease, as well as recent advances in our understanding of the genetic basis of several of these disorders, are reviewed here.