An observational study in Dysmorphia, Orphan Diseases and Dysmorphies Craniofaciales, sponsored by Imagine Institute. Recruiting at 1 site in France. Per ClinicalTrials.gov, last updated 2026-01-12.
Sponsored by Imagine Institute · Observational
The field of artificial intelligence is booming in medicine and in the field of diagnosis. The data can be varied: x-rays, pathology sections, or photographs.
It is considered that 30 to 40% of the 7000 rare diseases described to date cause craniofacial dysmorphia. Their detection sometimes requires the trained eye of a geneticist, because certain phenotypic traits are subtle. These diagnostic difficulties and the fact that certain diseases are extremely uncommon lead to considerable diagnostic delays
592 studies on the registry are indexed under Rare Diseases; 125 are open to participants now.
This study's planned enrollment of 22,000 is above the median of 133 across 208 observational studies indexed under Rare Diseases.
Browse Rare Diseases studies →Imagine Institute is the lead sponsor of 31 studies on the registry; 15 are open to participants now.
Compared within Rare Diseases, this study's primary condition as ClinicalTrials.gg classifies it; the registry's first condition term is Congenital Abnormalities. The counts are of registry records indexed under each term, refreshed daily. How we classify →
Recruitment will be carried out either:
In Necker in the services of:
Outside Necker:
The patient inclusion criteria are:
The inclusion criteria for control subjects are:
The criteria for non-inclusion of patients are:
The criteria for non-inclusion of control subjects are:
Other: Clinical data reuse
Other: Clinical data reuse
Clinical data reuse
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Learning an algorithm on 2D front and profile photographs, by extracting geometric and textural features, to help the practitioner carry out a diagnosis.
Time frame: through study completion, an average of 1 year
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Carry out phenotype/genotype correlations to explain the phenotype of a particular genetic variant
Time frame: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on ethnicity
Study the facial characteristics of a syndrome depending on ethnicity
Time frame: through study completion, an average of 1 year
Study the facial characteristics of a syndrome depending on age
Study the facial characteristics of a syndrome depending on age
Time frame: through study completion, an average of 1 year
Plan to share: No
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