DISEASE SCANNER

Global Incurable Diseases Tracker

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Rare Disease

Osteogenesis Imperfecta

HIGH SEVERITY

A group of genetic disorders causing brittle bones that break easily. Caused by defects in type I collagen. Range from mild (few fractures) to severe (lethal in infancy). Also known as brittle bone disease. Can affect teeth, hearing, and connective tissue.

Global Affected

50.0K

Countries

89

Symptoms

Frequent bone fractures
Blue sclerae
Short stature
Hearing loss
Dental problems
Loose joints
Weak muscles
Breathing problems (severe)
Triangular face shape

Treatment Options

Bisphosphonates
Physical therapy
Intramedullary rodding
Telescoping rods
Bracing
Hearing aids
Dental care
Fracture management
Respiratory support
Gene therapy (research)

Risk Factors

1Family history (autosomal dominant)
2COL1A1/COL1A2 mutations
3Spontaneous mutations
4Consanguinity
5Advanced paternal age

Diagnostic Methods

  • 1Clinical evaluation
  • 2Skeletal survey
  • 3Bone density testing
  • 4Collagen analysis
  • 5Genetic testing (COL1A1/COL1A2)
  • 6Prenatal ultrasound
  • 7Skin biopsy

Prognosis

Variable by type. Type I (mild): normal lifespan. Type II (severe): often lethal perinatal. Type III (severe): significant disability but can live to adulthood. Type IV (moderate): variable. Fractures decrease after puberty.

Prevention

  • Genetic counseling
  • Prenatal testing
  • Fall prevention
  • Safe exercise
  • Bone-healthy nutrition
  • Avoidance of contact sports
  • Home safety modifications

Research Status

Bisphosphonates reduce fracture rate. Physical therapy and safe exercise. Surgery for bone deformities (rodding). Telescoping rods for growing children. Gene therapy research ongoing. multidisciplinary care essential.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanBrazilMexicoRussiaChinaIndiaSwedenNorwayFinlandNetherlandsBelgiumSwitzerlandAustriaDenmarkPolandCzech RepublicHungaryRomaniaBulgariaCroatiaSloveniaSlovakiaLTLVEEIrelandPortugalGreeceCYMTLUIcelandNew ZealandSouth KoreaTaiwanSingaporeHong KongMalaysiaThailandIndonesiaPhilippinesVietnamSouth AfricaEgyptTurkeySaudi ArabiaUAEQatarKuwaitBHOmanJordanLebanonSyriaIraqIranPakistanBangladeshLKMMKHLAMNKPUzbekistanKazakhstanKGTJTMAzerbaijanAMGEUkraineBelarusMDALBAMKMESerbiaXK

Sources

  • https://www.mayoclinic.org/diseases-conditions/osteogenesis-imperfecta
  • https://rarediseases.org/rare-diseases/osteogenesis-imperfecta
  • https://www.hematology.org/education/patients
  • https://www.ncbi.nlm.nih.gov/books
  • https://rarediseases.org/rare-diseases

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.