Rare disease services and clinics

Our nationally commissioned services

  1. Alström Syndrome
  2. Bardet-Biedl Syndrome
  3. Severe, Complex and Atypical Osteogenesis Imperfecta
  4. Craniofacial Surgery
  5. Epidermolysis Bullosa
  6. Liver Transplant Surgery
  7. Lysosomal Storage Disorders
  8. Specialised Paediatric Liver Disease
  9. Retinoblastoma - Eye Cancer in Children
  10. Small Bowel Transplant Service for Children
  11. Wolfram Syndrome

The following clinics will be held in the new rare diseases centre:

  • Adolescent Adrenal
  • Adolescent Gynaecology
  • Adrenal Clinic
  • Alstrom Syndrome *
  • Arthrogryposis
  • Bardet Biedl Syndrome *
  • CHARGE
  • Complex Gastroenterology
  • Complex Lipid Disorder
  • Complex Neurology
  • Congenital Abnormal Kidneys & Urinary Tract
  • Congenital Hand Clinic
  • Craniofacial *
  • Cystic Fibrosis
  • Cystinosis
  • Demyelination
  • Di George Syndrome
  • Difficult Asthma
  • Emergency Metabolic Clinic
  • Endocrine Tumour Clinic
  • Familial Hypercholesterolaemia
  • Hands Forearm clinic
  • Hepatitis
  • Hepatobiliary Surgery *
  • Hepatology *
  • Hypophosphataemia
  • Liver metabolic
  • Lowe's/Dent's Clinic
  • Marfan Syndrome
  • MCADD
  • Metabolic Bone
  • Metabolic Organic Acidemias
  • Metabolic Transition
  • Nephrotic syndrome
  • Neurofibromatosis 2
  • Neurometabolic
  • Neuromuscular
  • Osteogenesis Imperfecta *
  • Osteogenesis Imperfecta Spinal clinics *
  • Oxalosis
  • Peripheral Limb Vascular Anomalies
  • Phenylketonuria
  • Phenylketonuria Adult
  • Posterior Urethral Valves
  • Praeder Willi Syndrome
  • Primary Ciliary Dyskinesia
  • Renal Genetics
  • Septo-optic dysplasia
  • Short Stature
  • Small Bowel/Liver Transplant clinic *
  • Surgical Antenatal Clinic
  • Surgical Bowel clinic
  • SWAN clinics
  • Roald Dahl Specialist Nurse Clinic
  • TPN Clinic
  • Tuberous Sclerosis Clinic
  • Wolfram Syndrome *

* Indicates a nationally commissioned service which encompasses the care of very rare and/or complex rare diseases from all over the country.