Related Experiment Video
Updated: Jun 5, 2025
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An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
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Child with KBG syndrome
Badiginchala Naga Jyothi1, Sumathi Angel1,2, Chinthalapalli Prakash Ravi Kumar1
1Pediatric Neurology, Aster CMI Hospital, Bengaluru, Karnataka, India.
BMJ Case Reports
|December 4, 2024
Summary
Face2Gene, a mobile app, identified Kabuki makeup syndrome (KBG syndrome) in a child with developmental delay and unique facial features. Exome sequencing confirmed the diagnosis, highlighting the app's diagnostic potential.
Area of Science:
- Medical Genetics
- Clinical Dysmorphology
- Bioinformatics
Background:
- Kabuki makeup syndrome (KBG syndrome) is a rare genetic disorder characterized by developmental delay, intellectual disability, and distinctive facial features.
- Early and accurate diagnosis is crucial for appropriate management and genetic counseling.
- Facial recognition software is emerging as a tool to aid in the diagnosis of rare genetic syndromes.
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