Summary of Recommendations

Document Overview

Design and created by Guideline Central in participation with the Consensus and Physician Experts.

Multidisciplinary Care of Children and Young People with Achondroplasia

Consensus and Physician Experts

Publication Date: May 18, 2026

Page Last Updated: May 19, 2026

A prenatal suspicion of achondroplasia on ultrasound should be referred to specialist maternal care and fetal medicine/clinical genetics teams, with parents offered appropriate counselling and prenatal genetic testing to confirm the diagnosis.
Care for pregnant mothers with achondroplasia and mothers carrying babies with achondroplasia should be consultant-led and managed in a specialist centre, with delivery typically planned via elective caesarean section due to cephalopelvic disproportion in mothers or fetal macrocephaly respectively.
Following a diagnosis of achondroplasia, patients should be promptly referred to a team experienced in the postnatal management of achondroplasia. In instances of prenatal diagnosis, engagement should be established before birth.
Parents of infants with achondroplasia should be given information about appropriate handling and positioning, car seat advice, and taught basic life support, prior to discharge from the postnatal ward.
Children with achondroplasia require multidisciplinary care. The multidisciplinary team should include experienced and relevant achondroplasia healthcare professionals (online supplemental material 8) and have access to specialist tertiary services through established pathways. Allied healthcare professionals such as occupational therapists, physiotherapists, clinical nurse specialists and psychologists should be embedded in the team.
Shared care with a named consultant within a local paediatric service is essential to aid holistic care.
Due to the severity of complications in the first years of life, infants should be seen by the specialist team at least every 6 months, and preschoolers at least every 6–12 months, with shared care in between with local services.
Within 3 months of birth (or diagnosis), all infants with achondroplasia should have MRI of the brain and spine to screen for radiological features of foramen magnum stenosis and hydrocephalus using a recommended protocol.
Infants with achondroplasia should have respiratory polysomnography no later than 6 months after birth (or diagnosis), or earlier if apnoea has been reported or there are concerns with the MRI.
The decision to undertake foramen magnum decompression surgery or placement of shunts in infancy must be made jointly by medical and neurosurgical teams and the procedure carried out by a neurosurgeon with experience in foramen magnum decompression in infants with achondroplasia. Surgery requires appropriate anaesthetic, neurophysiology and supportive care.
Children’s growth (height, weight and head circumference) and development should be regularly monitored using achondroplasia-specific charts, which should be provided to parents for their ‘red book’. At each visit, the importance of a healthy lifestyle, incorporating appropriate exercise and balanced nutrition, should be reinforced.
Families and individuals with achondroplasia should be offered the contact information of achondroplasia-support groups for peer support.
Children and young people with achondroplasia require access to specialist physiotherapy and occupational therapy; they will promote independence, activity, participation and access, with consideration to adaptations and equipment required. Shared care with local services is essential.
Children and young people with achondroplasia and their families should be offered specialist paediatric psychological support from diagnosis until transition to adult care.
Preschoolers with achondroplasia require 6-monthly audiological evaluations starting from 12 months of age. Abnormal audiology findings or clinical concern should be referred to ENT for evaluation and management.
A change in neurological function, such as gait disturbance, an acute reduction in walking distance or new loss of bowel or bladder continence, should warrant immediate evaluation and an MRI considered. Urgent consultation with a paediatric neurosurgeon or spinal surgeon may be required.
All children should be reviewed by an orthopaedic surgeon by the age of 7 years old.
If orthopaedic or spinal intervention is necessary, the decision to proceed with surgery should be made by a multidisciplinary team, and the operation should be performed by a surgeon who has expertise in treating individuals with achondroplasia. Surgery requires appropriate anaesthetic, neurophysiology and supportive care.
Infants with achondroplasia require a dental check by 12 months of age with a paediatric dentist to help prevent early childhood caries.
Children with achondroplasia should be seen at approximately 10 years of age by an orthodontist familiar with achondroplasia to assess facial growth.
Care of young people should be transferred to adult services led by a doctor with experience in rare bone conditions where available.
In preparation for adulthood, young people should be offered referral to genetic services.
New medical technologies should be prescribed under the care of a specialist achondroplasia centre. A minimal national dataset is needed for monitoring outcomes—this is in development.
All children and young people with achondroplasia, and their families, should be informed about available novel medical technologies, with written information provided, and be informed about research opportunities.

Document Overview

Document Title: Multidisciplinary Care of Children and Young People with Achondroplasia

Authoring Society: Consensus and Physician Experts

Document Publication Date: May 18, 2026

Page Last Reviewed/Updated: May 19, 2026

Document Type: Consensus Statement

Country of Publication: United Kingdom

Full Text Freely Available: Yes

Full Text Guideline: adc.bmj.com/content/111/6/545

Source Citation: Candler, Toby P et al. “UK consensus guidelines for multidisciplinary care of children and young people with achondroplasia: a modified Delphi process.” Archives of disease in childhood vol. 111,6 545-557. 18 May. 2026, doi:10.1136/archdischild-2025-329829

Supplemental Implementation Resources

Document Scope, Criteria, and Use Cases

Document Objectives: 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. The objective of this document is to develop UK-specific, multidisciplinary clinical recommendations for the care of children and young people (CYP) with ACH. 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.

Scope: Assessment and Screening, Diagnosis, Management

Keywords: achondroplasia

Inclusion Criteria: Male, Female, Adolescent, Child, Infant

Health Care Settings: Ambulatory

Intended Users: Nurse, Nurse Practitioner, Physician, Physician Assistant