Full Study Name
Genetic basis of craniofacial malformations
Local Principal Investigator
Prof Andrew OM Wilkie
To identify new genetic causes of craniofacial malformation.
- All patients attending one of the four nationally funded craniofacial units in England (Birmingham Children’s Hospital, Alder Hey Hospital Liverpool, Great Ormond Street Hospital London and John Radcliffe Hospital Oxford), who (a) on clinical assessment are found to have a significant craniofacial disorder expected to require surgery, or (b) in whom clinical assessment of the phenotype and/or family history suggests that the subject may be particularly instructive for further genetic research or that this may be beneficial for their diagnosis.
- Patients not attending one of the above four craniofacial units but referred to the study by a Consultant Clinical Geneticist, Paediatrician or Surgeon for genetic assessment of a craniofacial disorder.
- Appropriate informed consent
- Mild disorders not likely to require surgery.
- Refusal of consent.
- Referral from a source other than those stipulated above.
- Individuals with craniofacial disorders who have already had a surgical procedure and do not require a further procedure will normally be excluded, with the exception of specific referrals from a Consultant Clinical Geneticist, Paediatrician or Surgeon for genetic assessment of a craniofacial disorder.
- Isolated clefts of the lip and/or palate.
- Mentally incompetent adults.
Exeter, Southampton, Newcastle, Cardiff, Leicester, Glasgow, Guy’s, Nottingham, Aberdeen, Edinburgh, Cambridge, Sheffield, Belfast, Leeds, St George’s, North West London
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