RECRUITING

Digital Dysmorphology Project

Description

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.

Conditions

Study Overview

Study Details

Study overview

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.

Down Syndrome Detection From Facial Photographs Using Machine Learning Techniques

Digital Dysmorphology Project

Condition
Down Syndrome
Intervention / Treatment

-

Contacts and Locations

Washington

Children's National, Washington, District of Columbia, United States, 20010

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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.
  • * Subjects 18 years or older.

Ages Eligible for Study

to 18 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Kevin Cleary,

Kevin Cleary, PhD, PRINCIPAL_INVESTIGATOR, Children's National

Study Record Dates

2023-12