Digital Dysmorphology Project

Status unconfirmed · Not applicable

Conditions studied: Down Syndrome

In brief

In this study, the investigators propose a novel method to detect Down syndrome using photography for facial dysmorphology, a tool called computer-aided diagnosis (CAD). After validating the method, this technology will be expanded to perform similar functions to assist in the detection of other dysmorphic syndromes. By using photography and image analysis this automated assessment tool would have the potential to improve the diagnosis rate and allow for remote, non-invasive diagnostic evaluation for dysmorphologists in a timely manner.

Key facts

Study ID

NCT02651493

Run by

Kevin Cleary

People needed

750

Starts

2013-02-01

Expected to finish

2023-12-01

Last updated by the study team

2023-02-01

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• Pediatric subject with Down syndrome.
• Healthy pediatric siblings of a subject with Down syndrome and/or other individuals with another genetic referral to serve as a control group.
• Subject must be less than 18 years old.

You may not qualify if…

• Subjects 18 years or older.

Where it is running

• Children's National — Washington D.C., District of Columbia, United States (enrolling)

Full record on ClinicalTrials.gov

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