UAE Doctor Identifies Rare Genetic Disorder

Feb 18, 2026

84 min

Feb 18, 2026 07:30

Rare genetic disorder named after UAE doctor: Story behind El-Hattab-Schmidts syndrome

## Discovery of El-Hattab-Schmidts Syndrome

A rare genetic disorder affecting brain development and muscle strength has been named after Prof. Ayman W. El-Hattab, a clinical genetics expert at Burjeel Medical City in Abu Dhabi. This condition, now known as El-Hattab-Schmidts syndrome, marks a significant achievement for the UAE's medical research community.

## Understanding the Syndrome

El-Hattab-Schmidts syndrome is a neurodevelopmental disorder that impacts children's brain and body development. Symptoms include developmental delays, intellectual disabilities, and low muscle tone, which can cause feeding difficulties in infants. As children grow, they may face learning challenges, coordination issues, and sometimes seizures. Other symptoms can include eye problems, unique facial features, and structural brain differences. Some children may also experience breathing or heart-related issues.

## Genetic Inheritance and Diagnosis

The disorder is inherited in an autosomal recessive manner, meaning both parents typically carry a silent gene variant. Genetic testing is essential for diagnosis, and although there is no cure, early detection allows for therapies and support that can enhance quality of life.

## Research and Collaboration

The discovery began in 2018 when Prof. El-Hattab's team studied children with unexplained neurological symptoms. They identified variants in the PPP1R21 gene, previously unlinked to any disease. In 2019, a research group led by Dr. Schmidts found similar cases, confirming the syndrome's distinct nature. This collaboration led to the condition being named after both researchers.

## Importance of Diagnosis

For families, a diagnosis provides clarity and helps tailor medical care. It also allows parents to consider options like IVF with genetic testing to prevent recurrence. Prof. El-Hattab emphasizes the importance of genetic testing advancements in the UAE, which are crucial for identifying new conditions and improving patient care.

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