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Paediatric Bone Disease Service

A young patient in medical daycare

Who are the Paediatric Bone Disease Service?

Our Paediatric Bone Disease Service is an internationally recognised NHS funded team that provides high-quality multi-disciplinary care for children and young people with bone disease or variations in bone physiology.

It consists of a core specialist team providing continuity of care throughout childhood or episodic care, according to need. Our team includes medical consultants, nurse specialists, specialist physiotherapists and occupational therapists, a clinical psychologist, a social worker, and a dietician, supported by dedicated administrative support.

They work closely with a broader network of local colleagues including highly experienced orthopaedic and spinal surgeons, neurosurgeons, clinical geneticists and scientists, and specialist radiologists.

Who do we see in our service?

Our service sees a wide range of children and young people, including those with known or suspected:

  • Fragile bones or osteoporosis
  • Bone with altered mineralisation
  • Altered bone development (e.g. skeletal dysplasias)
  • Localised bone disease

These can be inherited or acquired due to some other disease or circumstances.

Selected diagnoses commonly seen by the service include:

  • Osteogenesis imperfecta (OI)
  • Vitamin D deficiency
  • X-linked hypophosphataemic rickets
  • Hypophosphatasia
  • Achondroplasia
  • Bone disease in premature infants
  • Fibrous dysplasia/McCune Albright syndrome

Our Paediatric Bone Disease Service are nationally commissioned to provide services for those with osteogenesis imperfecta and hypophosphatasia. They are one of only a few centres in the UK who can prescribe:

  • Asfotase alfa for hypophosphatasia 
  • Burosumab for X-linked hypophosphataemic rickets

What do we offer?

Our service offers a variety of clinics – typically 2-3 clinics running each week in Sheffield Children’s Hospital – including both general bone disease clinics and more specific clinics dedicated to particular groups of children and young people, such as those with achondroplasia.

Access to same-day bone mineral density measurement and other imaging means that a first clinic appointment will often consist of a one-stop specialist medical and therapy review alongside a comprehensive first set of investigations, where required.

They undertake clinics in other cities across the north of England for children and young people who are affected by severe or complex forms of osteogenesis imperfecta.

In Northern Ireland, our service work alongside a the local team to provide a clinic hosted in the Royal Belfast Hospital for Sick Children.

The Paediatric Bone Disease Service also provide support for children and young people with a learning disability, autism and complex needs. Visit our Resource Library to learn more about this.


Our Paediatric Bone Disease Service accept referrals from GPs or local consultants from anywhere in the UK. They also accept international referrals subject to appropriate arrangements.

They can be contacted directly on (+44) 0114 226 7885.

Paediatric Bone Disease research

Our Paediatric Bone Disease Service are committed to research as a means to understand and improve the lives of those with bone disease and altered bone physiology.

They have a strong track record of leading and participating in cutting-edge clinical research. They are fortunate to be supported by a leading children’s Clinical Research Facility. They can also help signpost to studies taking place in other centres in the UK and around the world.

Our Paediatric Bone Disease Service are currently looking to recruit to clinical studies in:

  • Achondroplasia
  • Osteogenesis imperfecta
  • X-linked hypophosphataemic rickets

What are our values?

We share the values of our organisation; We CARE.

  • We accept responsibility both for our individual practice and the quality of our service as a team.
  • We work as an integrated multi-disciplinary team, respecting and recognising the contribution and skills of all team members equally.
  • We promote inclusion of children in their local community and schools, supporting them to become the best that they can be in all that they do.
  • We see ourselves as part of a wider community of professionals, families and charities, committed to working together to improve the care of children and young people with a wide range of diseases of the skeleton.
  • Research is embedded in the day-to-day activities of our team; we will always strive to provide up-to-date and high-quality care for all the children and young people under our care.

Other sources of information and support

Brittle Bone Society – a national charity that supports individuals and families affected by osteogenesis imperfecta.

Care4BrittleBones – a charity which aims to improve the quality of life for people with Brittle Bone Disease by enabling more medical research.

Climb – a patient organisation for inherited metabolic disorders.

Restricted Growth Association – a charity that provides information and support to people of restricted growth and their families.

Little People UK 

Fibrous Dysplasia Support Society – a charity that provides information and support to people with fibrous dysplasia/McCune Albright syndrome.


Royal Osteoporosis Society


NHS England

NICE – The National Institute for Health and Care Excellence

Rare Disease Plan

Genomic Medicine England – good resource for education about genetics


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