When standard genetic tests came back negative for several children in the UAE with unexplained developmental delays and muscle weakness, doctors could easily have stopped looking.
Instead, further investigation led to the identification of a previously unknown rare genetic disorder now recognised internationally and named after its discoverers.
The condition, known as 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 — a gene not previously linked to human disease.
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“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.”
At the time, no medical literature connected defects in that gene to any condition. El-Hattab and his team published their initial findings in 2018, documenting children with overlapping clinical features and mutations in the same gene. Independent researchers in Europe later reported similar cases.
As more evidence emerged, the condition was formally recognised as a new syndrome and listed in the OMIM international genetics database under the name El-Hattab–Schmidt syndrome, reflecting the two research groups that independently identified it.
Since then, further studies have expanded understanding of the condition. A major case series published in January this year brought the total number of reported patients worldwide to 24, with cases identified across multiple countries. El-Hattab said the true number is likely higher, as access to genetic testing remains uneven globally and not all cases are reported.
How does the disorder manifest?
The disorder is primarily neurological, with affected children commonly presenting with developmental delay and muscle weakness — symptoms that are not unique on their own, but became 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.”
While there is currently no targeted treatment, formal recognition of the syndrome has immediate real-world impact. Once a condition is named and described, doctors can anticipate potential complications and provide more structured care, rather than treating symptoms in isolation.
“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.”
Families also benefit from clarity. A confirmed diagnosis allows parents to understand what lies ahead, connect with other families globally and prepare for future challenges. Just as importantly, it enables prevention.
What is El-Hattab–Schmidt syndrome?
El-Hattab–Schmidt syndrome is inherited in an autosomal recessive pattern, meaning both parents carry the gene mutation. Each pregnancy carries a 25 per cent risk of having an affected child. With a confirmed diagnosis, families can pursue 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.”
The discovery also opens the door to future research. Identifying the gene allows scientists to study how the mutation affects cells and organs, a necessary first step toward developing therapies or symptom-targeted treatments.
“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.”
El-Hattab has played a role in identifying multiple rare genetic syndromes during his career, contributing to the description of more than 20 conditions through collaborative research. El-Hattab–Schmidt syndrome is the third to bear his name.
For him, the goal extends beyond discovery. Many patients with rare diseases still spend years without answers, often labelled with broad terms such as “developmental delay” rather than receiving a molecular diagnosis.
“Developmental delay is a sign, not a diagnosis,” he said. “Like fever, it tells you something is wrong, but not why.”
He credits initiatives such as the Emirati Genome Project with improving access to genetic testing in the UAE, while noting that physician awareness remains a key challenge globally. Rare diseases, by definition, are unfamiliar to most clinicians, and genetic testing is still underused outside specialist centres.
As more previously unknown conditions are identified, El-Hattab believes earlier diagnosis will become increasingly possible – sparing future families years of uncertainty.
“Every time we name a condition,” he said, “we give patients answers, families options, and medicine a chance to do better.”
Source: Khaleej Times