El-Hattab-Schmidts syndrome is a newly recognised rare genetic neurodevelopmental disorder linked to PPP1R21 gene variants, identified through research led by Prof. Ayman W. El-Hattab, marking a milestone for the UAE’s medical community.
February 2026- A rare inherited disorder affecting brain development and muscle function has been formally named El-Hattab-Schmidts syndrome, after Prof. Ayman W. El-Hattab, Consultant Clinical Geneticist and Director of the Genetics and Rare Disease Centre at Burjeel Medical City, Abu Dhabi.
The naming marks a milestone for the UAE’s medical research community and represents the third rare condition in global scientific literature to bear Prof. El-Hattab’s name.
The syndrome is a genetic neurodevelopmental disorder presenting in early childhood. Affected children typically show developmental delays, intellectual disability, and low muscle tone, which can cause infants to appear floppy and struggle with feeding. As they grow, symptoms may include learning difficulties, coordination problems, and in some cases seizures. Doctors have also observed distinctive facial features, structural brain differences, and occasional heart or breathing complications requiring monitoring.
The condition follows an autosomal recessive inheritance pattern, meaning both parents carry the gene variant unknowingly. Genetic testing is needed to confirm diagnosis. While no cure currently exists, early identification enables targeted therapies and developmental support that meaningfully improve a child’s quality of life.
The journey to discovery began in 2018, when Prof. El-Hattab’s team assessed three children presenting with similar unexplained neurological symptoms. Standard genetic testing returned no matches, but variants were found in a gene called PPP1R21, one not previously linked to any known disease.
Also read: What Is Encephalitis Lethargica? Understanding the Mysterious Sleeping Sickness
“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. The following year, an independent multinational research group led by Dr. Schmidts identified a separate patient cohort with matching features and the same gene variants, strengthening the case. Further reports from research teams worldwide ultimately led to the syndrome’s formal recognition and naming.
For families, a confirmed diagnosis ends what is often years of uncertainty. It also opens the door to IVF with pre-implantation genetic testing, reducing the risk of recurrence in future pregnancies. Prof. El-Hattab has now contributed to identifying more than ten novel genetic syndromes. His message to families navigating undiagnosed conditions is direct: “Do not give up. With rapid progress in this field, more diagnoses are becoming possible.”
