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Hand and foot abnormalities associated with genetic diseases
Hand (New York, N.Y.)
|March 2, 2012
Summary
Examining hand and foot abnormalities can help diagnose rare genetic and metabolic disorders. Unique physical findings in the extremities often provide key diagnostic clues for these uncommon conditions.
Area of Science:
- Medical Imaging
- Genetics
- Pediatrics
Background:
- Systemic disorders can manifest unique and diagnostic findings in the small bones and soft tissues of the hands and feet.
- These extremities are frequently affected by genetic or metabolic disorders.
Purpose of the Study:
- To demonstrate the diagnostic utility of hand and foot examinations in identifying various genetic and metabolic disorders.
- To correlate clinical, physiological, and genetic characteristics with imaging findings.
Main Methods:
- Digitized photographs and imaging studies of hands and feet were utilized.
- Clinical, physiological, and genetic data were compiled for analysis.
- Institutional review board approval was obtained for the study.
Main Results:
- Detailed descriptions and illustrations of hand and foot abnormalities are presented for numerous rare diseases.
- Included conditions encompass Ellis-van Creveld syndrome, fibrodysplasia ossificans progressiva, achondroplasia, and mucopolysaccharidoses, among others.
- Specific examples include Kniest dysplasia, pseudo- and pseudo-pseudohypoparathyroidism, acromegaly, nail-patella syndrome, Marfan's disease, and cartilage-hair hypoplasia.
Conclusions:
- Clinical and imaging examinations of the hands and feet can aid in the diagnosis of many genetic disorders.
- The extremities serve as a valuable diagnostic window for a wide range of uncommon conditions.
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