Several children in the UAE, facing developmental delays and muscle weakness underwent standard genetic tests only for the results to turn up empty-handed. Parents were anxious, children confused and doctors, baffled over something that they weren’t even able to identify.
This is when UAE-based geneticist Ayman El-Hattab stepped in and provided dedicated hard work to identify a previously unknown rare genetic disorder, which is now recognised internationally and named after its discoverers.
The El-Hattab-Schmidt syndrome
The El-Hattab-Schmidt syndrome was first described in 2018 after clinicians identified children with similar neurological features who shared a mutation in the same gene, one previously not linked to human disease.
At the time, no medical literature connected defects in the gene to any condition. “All the genes we typically test were normal,” said Ayman W. El-Hattab, Consultant Clinical Genetics and Director of the Genetics and Rare Disease Centre at Burjeel Medical City. “So, we started looking beyond what was already known.”
El-Hattab and his team researched and published their initial findings in 2018. They documented children with overlapping clinical features and mutations in the same gene.
Later, independent researchers in Europe reported similar cases.
As more evidence emerged, the condition came to be recognised as a new syndrome and was listed in the OMIM international genetics database under the name ‘El-Hattab-Schmidt’ syndrome, crediting the two research groups that identified it independently.
What is the disorder?
The El-Hattab-Schmidt syndrome is primarily neurological, commonly manifesting in affected children with developmental delay and muscle weakness. While these symptoms are not unique on their own, they become significant once linked to the same genetic mutation.
“None of the symptoms are specific by themselves,” El-Hattab said. “What made this a new syndrome was finding the same genetic defect in children with similar clinical features.”
The syndrome is inherited in an autosomal recessive pattern, meaning both carry the gene mutation. Each pregnancy carries a 25% risk of having an affected child. With a confirmed diagnosis, families can opt for options such as IVF with embryo testing to avoid recurrence.
“Without knowing the genetic cause, you cannot prevent it,” Prof. El-Hattab said. “Once you know it, everything changes.”
While it lacks a real-world treatment right now, its formal identification has set the wheels in motion. Once a condition is named and described, doctors can anticipate potential complications and provide more structured care rather than grasping at straws.
“If we know a syndrome may affect the eyes, we arrange regular eye exams,” El-Hattab explained. “If it is associated with hearing, heart or hormonal issues, we monitor those proactively.”
More research has been carried out after the identification of the syndrome. A major case series published in January 2026, revealed the total number of reported patients worldwide to be 24. According to El-Hattab, the actual number might be higher considering that access to genetic testing remains uneven globally and not all cases are reported.
However, as more previously unknown conditions are identified, he believes earlier diagnosis will become increasingly possible, sparing future families of the uncertainty.
“This is how progress starts,” he said. “You understand the defect, then you ask how to treat it — whether through medication, supportive therapy or eventually gene-based approaches.”
