Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
Referral criteria for a child with suspected achondroplasia to a specialist clinic:
- Children with clinical features suggestive of achondroplasia, such as disproportionate short stature, characteristic facial features, and limb shortening, should be referred to a specialist paediatric genetics or skeletal dysplasia clinic for confirmation and management.
- Referral should be made promptly once achondroplasia is suspected to enable early diagnosis, genetic counselling, and multidisciplinary care including monitoring for complications.
- Although the provided UK guidelines do not explicitly list achondroplasia referral criteria, standard practice in UK paediatrics is to refer any child with suspected skeletal dysplasia, including achondroplasia, to specialist services for assessment and management.
Therefore, the key referral criterion is clinical suspicion of achondroplasia based on physical features and growth pattern, warranting specialist evaluation.