Diagnosis of rare diseases based on facial phenotype: a quantitative assessment using 2D and 3D photography in Stickler syndrome.

doi:10.1186/s13023-026-04323-4

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Article

Diagnosis of rare diseases based on facial phenotype: a quantitative assessment using 2D and 3D photography in Stickler syndrome.

Orphanet journal of rare diseases - 27 Jul 2026

Rohée-Traoré Adèle, Taverne Maxime, Hennocq Quentin, Bongibault Thomas, Daruich Alejandra, Bremond-Gignac Dominique, Kün-Darbois Jean-Daniel, Rothschild Pierre-Raphaël, Khonsari Roman-Hossein

Abstract excerpt

Stickler syndrome (SS) is a rare genetic disorder caused by mutations in collagen-encoding genes. Patients with SS are at an increased risk of retinal detachment, with ophthalmologic complications often presenting as the first symptom due to significant diagnostic delays. These delays contribute to severe visual impairment, even in early childhood, making diagnostic uncertainty a major clinical challenge. This...

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Topics

Humans
Retinal Detachment
Connective Tissue Diseases
Arthritis
Phenotype

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Hearing Loss, Sensorineural

Female

Rare Diseases

Male

Photography

Face

Child

Machine Learning

Source

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Identifiers

PMID: 42728601
DOI: 10.1186/s13023-026-04323-4
PMCID: PMC13570527

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