As genetic science advances rapidly worldwide, researchers are identifying previously unknown disorders and providing long-awaited answers to families. In the UAE, one such breakthrough has placed the country firmly on the global rare disease research map.

A rare inherited disorder affecting brain development and muscle strength has now been formally named after a specialist at Burjeel Medical City, marking a major milestone for the nation’s medical research community.

The condition, now called El-Hattab-Schmidts syndrome, was identified through research led by Prof. Ayman W. El-Hattab, Consultant in Clinical Genetics and Director of the Genetics and Rare Disease Centre at Burjeel Medical City. It is the third rare disorder in scientific literature to carry his name.

El-Hattab-Schmidts syndrome is a genetic neurodevelopmental condition that disrupts how a child’s brain and body develop from early life. Children with the disorder typically experience global developmental delay and intellectual disability. A defining feature is low muscle tone, which can make infants appear floppy and cause feeding difficulties. As they grow, some develop learning challenges, coordination problems, and seizures.

Doctors have also observed vision issues, distinctive facial features, and structural brain differences on imaging. In some cases, breathing complications or heart-related findings require careful monitoring.

The disorder follows an autosomal recessive inheritance pattern, meaning both parents usually carry a silent copy of the gene variant. Diagnosis requires specialised genetic testing.

The discovery began in 2018, when Prof. El-Hattab’s team evaluated three children with unexplained neurological symptoms and identified variants in the PPP1R21 gene, which had not previously been linked to any disease.

“The similarity of the clinical features and the biological importance of the gene suggested we were looking at a new syndrome,” Prof. El-Hattab said.