{
  "abstract": "Background Achondroplasia (ACH), the most common skeletal dysplasia, arises from gain-of-function variants in the fibroblast growth factor receptor 3 gene. Children with ACH experience lifelong medical, functional and psychosocial challenges requiring coordinated and anticipatory care. Although international guidance exists, the UK lacks national clinical care recommendations specific to its healthcare systems.Objective To develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH.Methods The UK Achondroplasia Network developed guidance in stages: stakeholder mapping of the care pathway, integration of contemporary literature with clinical expertise to draft age-specific guidance and Delphi statements, and a modified Delphi process with 25 multidisciplinary experts. The Delphi process involved two voting rounds and an in-person meeting, with consensus defined as ≥80% agreement.Results In the first Delphi round, all 20 statements achieved consensus; nine achieved 100% agreement. To strengthen consensus, after meeting in person, 17 statements were refined (four were divided into two statements), one created and one removed, resulting in 24 statements for Round 2; all achieved consensus, with 21 reaching 100% agreement. The guidance outlines age-specific monitoring and referral from infancy to adolescence. Recommendations address medical management of complications, psychosocial support, educational planning and transfer to adult care.Conclusion These are the first UK-specific multidisciplinary recommendations for the care of CYP with ACH. Aligned with international best practices and tailored to UK healthcare systems, they support anticipatory care, promote independence and enhance health and psychosocial outcomes. The guidelines offer a foundation for service planning, standardisation and equitable care.",
  "authors": [
    {
      "affiliations": [
        "Bristol Royal Hospital for Children, Bristol, England, UK",
        "NIHR Biomedical Research Centre (Diet and Physical Activity Theme), University of Bristol, Bristol, England, UK"
      ],
      "name": "Toby P Candler"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK"
      ],
      "name": "Kate Ali"
    },
    {
      "affiliations": [
        "Orthopaedics, Spinal and Rare Bone Disorders, Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK"
      ],
      "name": "Emma Bewick"
    },
    {
      "affiliations": [
        "Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, England, UK"
      ],
      "name": "Stephanie A Borg"
    },
    {
      "affiliations": [
        "Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, England, UK"
      ],
      "name": "Amish Chinoy"
    },
    {
      "affiliations": [
        "Faculty of Dental, Oral & Craniofacial Sciences, Centre for Craniofacial & Regenerative Biology, King’s College London, London, England, UK",
        "Guy's and St Thomas’ NHS Foundation Trust, London, England, UK"
      ],
      "name": "Martyn T Cobourne"
    },
    {
      "affiliations": [
        "Evelina London Children’s Hospital, London, England, UK"
      ],
      "name": "Alessandra Cocca"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK"
      ],
      "name": "Anita Freeman"
    },
    {
      "affiliations": [
        "Paediatric Psychology Department, Evelina London Children’s Hospital, London, England, UK"
      ],
      "name": "Jonathan Gibbins"
    },
    {
      "affiliations": [
        "Royal Manchester Children’s Hospital, Manchester, England, UK"
      ],
      "name": "Emma Gosnell"
    },
    {
      "affiliations": [
        "Children’s Dental Centre, St Thomas’ Hospital, London, England, UK"
      ],
      "name": "Mike Harrison"
    },
    {
      "affiliations": [
        "Paediatric Skeletal Dysplasia Service, Evelina London Children’s Hospital, London, England, UK"
      ],
      "name": "Kathryn Johnson"
    },
    {
      "affiliations": [
        "Addenbrooke’s Hospital, Cambridge, England, UK"
      ],
      "name": "Mark Latimer"
    },
    {
      "affiliations": [
        "Royal Hospital for Children, Glasgow, Scotland, UK"
      ],
      "name": "Helen McDevitt"
    },
    {
      "affiliations": [
        "All Wales Medical Genomics Service, Wales Genomic Health Centre, NHS Wales Cardiff and Vale University Health Board, Cardiff, Wales, UK"
      ],
      "name": "Oliver Murch"
    },
    {
      "affiliations": [
        "Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, England, UK"
      ],
      "name": "Ruchi Nadar"
    },
    {
      "affiliations": [
        "Sheffield Children’s Hospital NHS Foundation Trust, Sheffield, England, UK",
        "Professor and Honorary Consultant Paediatric Radiologist, School of Medicine & Population Health, The University of Sheffield, Sheffield, England, UK"
      ],
      "name": "Amaka C Offiah"
    },
    {
      "affiliations": [
        "Neurosurgery Department, Alder Hey Children’s NHS Foundation Trust, Liverpool, England, UK"
      ],
      "name": "Chris Parks"
    },
    {
      "affiliations": [
        "Paediatric Endocrinology, Royal Manchester Children’s Hospital, Manchester, England, UK",
        "The University of Manchester, Manchester, England, UK"
      ],
      "name": "Mars Skae"
    },
    {
      "affiliations": [
        "Bristol Royal Hospital for Children, Bristol, England, UK"
      ],
      "name": "Sarah F Smithson"
    },
    {
      "affiliations": [
        "Bristol Royal Hospital for Children, Bristol, England, UK"
      ],
      "name": "Ian Tucker"
    },
    {
      "affiliations": [
        "Evelina London Children’s Hospital, London, England, UK"
      ],
      "name": "Simona Turcu"
    },
    {
      "affiliations": [
        "Norwich Medical School, University of East Anglia, Norwich, England, UK",
        "Jenny Lind Children's Hospital, NNUH, Norfolk and Norwich University Hospital, Norwich, England, UK",
        "Jenny Lind Children's Hospital, Norfolk and Norwich University Hospital NHS Trust, Norwich, UK"
      ],
      "name": "Emma A Webb"
    },
    {
      "affiliations": [
        "Newcastle Upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, England, UK"
      ],
      "name": "Michael Wright"
    },
    {
      "affiliations": [
        "Great Ormond Street Hospital for Children NHS Foundation Trust, London, England, UK",
        "NIHR Great Ormond Street Hospital Biomedical Research Centre, London, England, UK"
      ],
      "name": "Moira S Cheung"
    }
  ],
  "title": "UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process",
  "uid": "854fde0a-8772-5736-ad23-46b172dd3b93"
}