Evaluating Face-Recognition Technology in Syndrome Diagnosis
Multiple Anomalies, Dysmorphic Features, Inborn Errors of Metabolism
About this trial
This is an interventional diagnostic trial for Multiple Anomalies
Eligibility Criteria
Inclusion Criteria:
- Patients attending routine genetic clinic/paediatric clinic appointments for diagnosis of a multiple anomaly syndrome where distinctive facial features form part of their presenting pattern.
OR:
- Biochemically or genetically confirmed diagnosis of inborn disorder of metabolism where no well described dysmorphic facial features are known to be associated with disorder
Exclusion Criteria:
- Patients under 8 months of age where face-recognition technology has not been shown to be effective.
- Patients who decline clinical photography as part of standard care.
- Patients who do not wish to consent to participation in the study even though they consent to photos being taken for standard care.
Sites / Locations
- Manchester University NHS Foundation Trust
Arms of the Study
Arm 1
Arm 2
Other
Other
Main Study
Faces Sub Study
Patients attending routine genetic clinic/paediatric clinic appointments for diagnosis of a multiple anomaly syndrome where distinctive facial features form part of their presenting pattern.
Patients eligible to be recruited to the Faces Sub Study will have biochemically or genetically confirmed diagnosis of inborn disorder of metabolism where no well described dysmorphic facial features are known to be associated with disorder.