Osteogenesis imperfecta in children

Collagen is the protein framework that gives bone its toughness. In most children with osteogenesis imperfecta, a change in the COL1A1 or COL1A2 gene means there is too little collagen, or collagen of poor quality, so bones are weaker than they should be. MedlinePlus Genetics describes at least 19 recognised types, ranging from mild to very severe, and notes that most of the milder, collagen-related forms are inherited in an autosomal dominant way, while many of the rarer types are recessive.

Within a family the severity can still differ. Some children are born into a family with no history because the gene change appeared for the first time in them. For this reason clinicians talk about the type and severity in the individual child rather than assuming it will match a parent or sibling.

Great Ormond Street Hospital describes children with OI having fractures usually caused by minimal impact, bone deformities, bluish-tinged eyes, flexible joints, tooth problems, fatigue, hearing difficulties and a shorter stature than peers. NORD adds that the most severe form can be life-threatening at birth with breathing problems, while in the commonest form fractures cluster in childhood and around puberty and intelligence is normal.

The bluish tint of the whites of the eyes, called blue sclerae, is characteristic of the milder forms. Dentinogenesis imperfecta, a tooth development disorder that leaves teeth discoloured and fragile, occurs in more severe presentations, so early dental review is part of care. Some people notice hearing loss, which MedlinePlus Genetics says affects about half of those with type I by adulthood.

• Fractures after normal handling, nappy changes or minor falls.

• Bowing of arms or legs, or a curved spine.

• Blue-grey tint to the whites of the eyes.

• Loose joints, tiredness and slower motor milestones.

• Brittle, translucent or discoloured teeth.

Great Ormond Street states that diagnosis is primarily clinical, based on examination and medical history, with X-rays to check for fractures and bone changes. Genetic testing is available but is not always needed to start care. A genetics team may use it to identify the type, advise on inheritance and, in some families, to support planning for later pregnancies.

Because babies with repeated fractures can raise understandable concern about how the injuries happened, families sometimes go through a child protection assessment before OI is recognised. Clear communication helps: ask the specialist team for a written summary of the diagnosis that you can share with nurseries, schools and emergency departments.

Treatment aims to reduce fractures, support movement and protect independence. Great Ormond Street lists bisphosphonates, namely pamidronate and zoledronic acid, which strengthen bones by increasing density, along with vitamin D supplements to help calcium absorption. NORD notes that denosumab and teriparatide are more often considered for adults.

Physiotherapy and occupational therapy help children build muscle strength, stay mobile and manage daily tasks. NORD mentions water-based therapy as a way of exercising with less fracture risk, and metal rod insertion, known as rodding, to stabilise long bones in more severe cases. Orthopaedic teams decide on surgery case by case.

Regular monitoring covers hearing, teeth, spine curvature and breathing function. Parents are usually taught how to handle, lift and position a baby safely, and schools can agree a care plan for playtimes, school trips and PE.

Great Ormond Street Hospital describes operating one of four highly specialised OI services in England, with a multidisciplinary team of paediatric doctors, therapists, nurses, psychologists and social workers. The service covers assessment, ongoing monitoring and family support from birth until age 18. Referral usually comes from a paediatrician, and adolescents then move to adult services, such as those described in the guide to osteogenesis imperfecta in adults.

Services and referral routes change, so ask your child's paediatrician which centre covers your area and how local hospital care is shared with the specialist team.

A suspected fracture needs same-day assessment at A&E or an urgent treatment centre, and the family should carry a letter explaining the diagnosis. Call 999 for a head injury with drowsiness or vomiting, severe breathing difficulty, or an injury to the neck or back, and avoid moving the child more than necessary.

Outlook depends strongly on the type. Mild forms are compatible with a full lifespan and active life, while the most severe form is life-limiting in infancy. Great Ormond Street describes the picture for most children who attend its service as one in which, with adaptations, they can go to school and college and start work. Fracture frequency often falls after puberty in milder forms, although bone, hearing and dental care continue into adulthood.