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Hormone and bone diseases

Osteogenesis imperfecta (brittle bone disease)

A group of inherited diseases in which the bones break easily. In the mild type, a few fractures occur over a lifetime. In the severe type, fractures can begin even before birth.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: German, English, Spanish, French, Italian, Polish, Portuguese). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Hormone and bone diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Osteogenesis imperfecta is a group of inherited diseases in which the bones are fragile. Bones can break with a small knock, and sometimes for no reason. In the most common types, there is a problem with a protein called collagen, which gives bones their strength. Severity ranges from a few fractures over a lifetime to fractures before birth.

Which symptoms can occur?

Symptoms are very different depending on the type.

  • Bones that break easily (common; mostly in childhood)
  • The whites of the eyes look blue or gray (common in mild types)
  • Hearing loss in adulthood (in about half of people with mild types)
  • Short stature, curvature of the spine and misshapen bones (in severe types)
  • Gray or brown teeth that wear down easily (sometimes)
  • Difficulty breathing (in the most severe types)

How is it diagnosed?

The diagnosis is considered based on fractures, examination findings and X-rays. A genetic test often shows the change in the collagen genes. Severe types can sometimes be noticed on ultrasound during pregnancy.

Treatment and care

Care is provided by a team of different specialists. Physiotherapy and occupational therapy strengthen the muscles and support movement. Fractures are treated by keeping them still for a short time with a light cast; sometimes metal rods are placed in the bones. Some people also need medicine, dental care and hearing care. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The most common types are passed on through dominant inheritance; some types are passed on through recessive inheritance. Severe types almost always appear for the first time in a family, through a new change. So the risk is different in each family; genetic counselling is recommended.

Source: MedlinePlus Genetics – Osteogenesis imperfecta · GeneReviews – COL1A1- and COL1A2-Related Osteogenesis Imperfecta

Key facts

How common is it?
Prevalence: 1-5 per 10 000 (Worldwide)
When does it usually start?
Any age
Gene(s) involved
COL1A1, COL1A2, IFITM5, SERPINF1, CRTAP, P3H1

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about OI

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 15 active interventional studies for this disease. 7 are recruiting now; 2 have sites in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Hormone and bone diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:666 · ICD-11 LD24.K0

Codes checked against WHO ICD-11 and Orphanet on October 6, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.