UAE rare genetic disorder named after Abu Dhabi specialist at Burjeel Medical City

WAM

Abu Dhabi, February 20, 2026 (Saudi Arabia Breaking News) – A rare inherited genetic disorder affecting brain development and muscle strength has been officially named after an Abu Dhabi-based specialist at Burjeel Medical City, in what researchers described as a milestone for the United Arab Emirates’ medical research community.

The condition, now known as El-Hattab-Schmidts syndrome, was identified through research led by Prof. Ayman W. El-Hattab, consultant clinical genetics and director of the Genetics and Rare Disease Centre at Burjeel Medical City, the hospital said. It is the third rare medical condition in scientific literature to carry his name.

El-Hattab-Schmidts syndrome is a genetic neurodevelopmental disorder that affects how a child’s brain and body develop from early life.

Doctors said children with the condition typically show global developmental delay and intellectual disability, with low muscle tone that can create feeding difficulties in infancy. As children grow, they may face learning challenges, coordination problems and, in some cases, seizures.

Clinicians have also observed eye-related issues, distinctive facial features and structural brain differences on imaging. Some children may develop breathing difficulties or heart-related findings that require monitoring, according to the research summary.

The disorder follows an autosomal recessive inheritance pattern, meaning both parents usually carry a silent copy of the gene change without knowing it, and genetic testing is required to confirm the diagnosis, the hospital said.

While there is no cure, early identification allows children to receive therapies, neurological care and developmental support that can improve quality of life, it added.

The discovery began in 2018 when El-Hattab’s team evaluated three children with similar unexplained neurological and developmental symptoms. Variants were identified in a gene called PPP1R21, which at the time had not been associated with any disease, the hospital said.

In 2019, a multinational research group led by Dr. Schmidts published an independent cohort of patients with comparable clinical features and PPP1R21 variants, strengthening the evidence, it added. Subsequent case reports from multiple groups further established the disorder as a distinct syndrome, leading to its formal naming in recognition of both researchers’ contributions.

El-Hattab said a confirmed genetic diagnosis can help tailor care and give families a clearer understanding of the condition. He said confirmation can also inform future family planning, including IVF with pre-implantation genetic testing to reduce the risk of recurrence.

El-Hattab said advances in genetic testing in the United Arab Emirates are accelerating discoveries and helping clinicians identify conditions that previously lacked a diagnosis.

The hospital said the milestone also reflects growing contributions by the Genetics and Rare Disease Centre at Burjeel Medical City to international efforts to understand and diagnose ultra-rare disorders.