Rare Genetic Disorder Identified in UAE Named After Its Discoverer

A rare genetic disorder identified at Burjeel Medical City has been officially named after the physician who first recognised it — a significant moment for science emerging from the UAE.

What is the Syndrome?

A rare inherited disorder, affecting cognitive function and muscle strength, has been named in honour of an Abu Dhabi-based specialist from Burjeel Medical City. The condition, now named El-Hattab-Schmidts syndrome, was discovered by Prof. Ayman W. El-Hattab, Consultant Clinical Genetics and Director of the Genetics and Rare Disease Center at Burjeel Medical City.

How was the Disorder Discovered?

Prof. El-Hattab's team started the research in 2018. Three children had similar, uncommon neurological and developmental symptoms. After his examination, the routine genetic testing did not match any known disorder. However, variants were identified in the PPP1R21 gene, which (at the time) had not been linked to disease.

In 2019, an international research team led by Dr. Schmidts studied a separate group of patients with similar features and PPP1R21 variants, which made the findings stronger. Later, other researchers confirmed that it is a unique syndrome. It was officially named to honour the contributions of both teams.

What are the Symptoms of the El-Hattab-Schmidts Syndrome?

Children with the disorder generally experience global developmental delay and intellectual disability. A defining symptom is low muscle tone, which can make infants look floppy and face difficulties during feeding. As they grow, some develop learning issues, coordination problems, and even seizures.

Doctors have identified vision-related problems, peculiar facial features, and structural brain differences on imaging. In some cases, breathing complications or heart-related issues require careful observation.

Is There a Treatment for El-Hattab-Schmidts Disorder?

Although at this moment, there is no cure for this disorder, a confirmed diagnosis changes everything for a family. Prof. El-Hattab states, "If we know a syndrome may affect the eyes, we arrange regular eye exams. If it is associated with hearing, heart, or hormonal issues, we monitor those proactively".

Finding the genetic cause allows doctors to provide the right treatment and helps families make sense of the condition.

Know the Genetics of the Syndrome and How to Prevent It

El-Hattab-Schmidts syndrome is inherited in an autosomal recessive pattern, meaning both parents carry the gene mutation. Each pregnancy has a 25% risk of having an affected child. Once diagnosed, families may use IVF and test embryos to reduce the risk of recurrence of the health condition. "Without knowing the genetic cause, you cannot prevent it," Prof. El-Hattab said.

The Bigger Picture

Throughout his career, El-Hattab has helped discover several rare genetic disorders and worked with others to identify over 10 conditions. El-Hattab-Schmidts syndrome is the third to bear his name. Finding new genes that cause diseases helps researchers understand how diseases develop and makes it easier to develop new treatments in the future.

His message to families — "Do not give up. With rapid progress in this field, more diagnoses are becoming possible."

Disclaimer: The information on this page is for reference purposes only and does not constitute any medical advice. For further health queries or concerns, please consult a qualified doctor or a healthcare professional.

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