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 significant scientific 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, Genetics and Rare Disease Centre, 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 with the condition 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 children 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 also 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 allows children to receive 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 associated with 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.
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. Subsequent case reports from multiple groups further established the disorder as a distinct syndrome, eventually leading to its formal naming in recognition of both researchers’ contributions.
Why diagnosis matters
For families, receiving a diagnosis often ends a long and difficult search for answers. According to Prof. El-Hattab, identifying the genetic cause helps healthcare providers tailor care and gives families a clearer understanding of the condition.
Because the disorder 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 in future pregnancies.
Prof. El-Hattab has been involved in identifying more than 10 novel genetic syndromes and describing numerous ultra-rare conditions. He says advances in genetic testing in the UAE are accelerating discoveries that were not possible before.
“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.
He added that rare disease research extends beyond individual patients
Discovering new disease-causing genes helps researchers understand disease mechanisms and opens pathways for exploring future therapies.
His message to families seeking answers is one of persistence. “Do not give up. With rapid progress in this field, more diagnoses are becoming possible.”
This milestone also underscores the growing contributions of the Genetics and Rare Disease Center led by Prof. El-Hattab at Burjeel Medical City, Abu Dhabi, to global efforts in understanding and diagnosing ultra-rare disorders.
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