Skeletal Dysplasia

Clinical service description

A dedicated clinic for children with known or suspected skeletal dysplasia is held 4 times a year on the first Tuesday of the month at St Mary’s Hospital Genetics, Out Patient Department, Manchester. The aim of the clinic is to facilitate diagnosis of skeletal dysplasias and provide management advice and information about the condition to families and clinicians. This is a multi-disciplinary clinic attended by paediatric radiologists, Dr Dixon and Dr Maniya, paediatric endocrinologist Dr Skae, paediatric geneticist Dr Chandler and paediatric orthopaedic surgeons, Miss Davies and Mr Majid. All clinicians have a special interest and expertise in skeletal dysplasias. We also link in with European Skeletal Dysplasia Network and make referrals to their service. In addition, as we are part of the Manchester Genomic Medicine Centre, where appropriate, we recruit patients into the 100,000 Genomes Project.

Referral information

Referrals for children with a known or suspected skeletal dysplasia are accepted from paediatricians across the north-west region. (Exceptions to this are patients with an established diagnosis of Achondroplasia who will be seen instead in a separate genetic clinic by Dr Chandler and/or the bone metabolic clinic by Dr Skae.) All accepted referrals need to have had a skeletal survey performed and images transferred by PACS to RMCH radiology department which will be reviewed prior to the child being seen in the clinic. In addition, names and dates of birth of other affected family members (eg parent or sibling) can be useful. Referrals should be sent to Dr Chandler, Consultant Clinical Geneticist.

Useful Information

Skeletal survey should include the following Xrays:

  • Skull – AP and lateral
  • Spine thoracic, lumbar and sacral-lateral
  • Dedicated lateral view of cervical spine if abnormality of this site suspected
  • Chest – AP – include shoulder joints and clavicles
  • Pelvis – AP -include symphysis pubis
  • One upper limb – AP
  • One lower limb – AP
  • Left Hand – include wrist for bone age
Useful Links


The 100,000 Genome Project

Restricted Growth Association

Little People UK