What is Nail Patella Syndrome?
Nail Patella Syndrome (NPS) is a rare genetic disorder that affects multiple parts of the body, primarily the nails, knees, elbows, and pelvis. It's also known as hereditary onycho-osteodysplasia (HOOD syndrome).
Key Features
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Nail abnormalities: Missing or underdeveloped fingernails and toenails
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Skeletal changes: Small or absent kneecaps (patellae)
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Joint involvement: Limited mobility in elbows and knees
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Kidney involvement: Possible kidney problems in some cases
Common Symptoms
Nail Changes
- Missing or underdeveloped nails, especially thumbnails
- Triangle-shaped lunulae (white crescents)
- Split or ridged nails
Skeletal/Joint Issues
- Small or absent kneecaps
- Limited elbow extension
- Hip abnormalities
- Lower back problems
Other Features
- Eye problems (increased pressure)
- Kidney abnormalities
- Decreased bone density
Diagnosis
- Physical examination
- Family history evaluation
- Genetic testing
- X-rays of joints
- Kidney function tests
Treatment and Management
Physical Support
- Physical therapy
- Occupational therapy
- Orthopedic devices when needed
Medical Monitoring
- Regular kidney function tests
- Eye pressure monitoring
- Orthopedic evaluations
Living with NPS
- Regular medical check-ups
- Lifestyle modifications
- Support group participation
- Genetic counseling for family planning
When to See a Doctor
- Joint pain or mobility issues
- Signs of kidney problems
- Vision changes
- Before planning pregnancy
Inheritance Pattern
- Autosomal dominant inheritance
- 50% chance of passing to children
- Caused by mutations in LMX1B gene