Rare genetic disorder named after UAE doctor: Story behind El-Hattab-Schmidts syndrome

A rare inherited disorder affecting brain development and muscle strength has been officially named after an Abu Dhabi-based specialist at Burjeel Medical City, marking a milestone for the UAE’s 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 Center at Burjeel Medical City. 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.

Children typically show global developmental delay and intellectual disability. A major feature is low muscle tone, which can make infants appear floppy and lead to feeding difficulties. As they grow, they may experience learning challenges, coordination problems and, in some cases, seizures. Doctors 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.

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

While there is no cure, early identification enables therapies, neurological care and developmental support that can significantly improve quality of life.

The discovery began in 2018, when Prof El-Hattab’s team evaluated three children with similar unexplained neurological and developmental symptoms. Routine genetic testing did not match any known disorder, but variants were identified in a gene called PPP1R21, which at the time had not been linked to disease.

“The similarity of the clinical features and the biological importance of the gene suggested we were looking at a new syndrome,” said Prof. El-Hattab, who hails from Jordan and now resides in Abu Dhabi.

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

For families, receiving a diagnosis often ends a long search for answers. Identifying the genetic cause helps doctors tailor care and gives families clarity about the condition.

Because it is inherited in an autosomal recessive manner, confirming the genetic defect also allows parents to consider IVF with pre-implantation genetic testing to reduce the risk of recurrence.

Prof El-Hattab has been involved in identifying more than 10 novel genetic syndromes. He underlined that advances in genetic testing in the UAE are accelerating discoveries.

“Many children still present with complex symptoms without a clear diagnosis. Advances in genetic testing are helping us uncover more of these conditions and provide answers to families,” he said, noting that discovering new disease-causing genes improves understanding of disease mechanisms and may open pathways for future therapies.

His message to families is one of persistence: “Do not give up. With rapid progress in this field, more diagnoses are becoming possible.”