A new rare disease, El-Hattab–Schmidts syndrome, has been established in global clinical genetics.
Professor Ayman W. El-Hattab, Founder & President of the MENA Organization for Rare Diseases, is well known to the professional community in the CIS countries: in June 2025, he participated in the CIS Orphan Forum in Moscow.
Today, we celebrate an event that highlights the scale of his scientific contribution: the name of a new rare hereditary disease has been established in international clinical genetics: El-Hattab–Schmidts syndrome.
Clinical Characteristics
This is a rare autosomal recessive disease characterized by neurological impairments. The clinical picture develops from an early age and includes:
• general developmental delay;
• cognitive impairment;
• severe muscle hypotonia;
• impaired coordination and motor development;
• seizures in some cases;
• possible ophthalmological manifestations and changes according to neuroimaging data.
History of Description
The first clinically similar cases were identified and characterized by Prof. El-Hattab's team in the UAE in 2018. Subsequently, independent international verification and comparable observations, confirmed by a European group led by Schmidts, strengthened the evidence base and led to the syndrome's international recognition.
El-Hattab–Schmidts syndrome became the third disease to be named after Professor El-Hattab's contribution. Previously, the following were established in the literature:
• El-Hattab-Alkuraya syndrome (WDR45B-associated disorder);
• Suleiman-El-Hattab syndrome (SULEHS) (TASP1-associated syndrome).
This "triad" of eponyms is a rare marker of a sustainable contribution to the identification and clinical-genetic description of new syndromes.
Clinical Significance
Currently, there is no etiotropic or pathogenetic therapy. However, identifying the syndrome as an independent nosology and establishing its genetic cause makes possible:
• accurate molecular diagnostics;
• confirmation of the diagnosis;
• timely administration of symptomatic therapy and supportive care;
• development of registration and research programs.
Continuing the professional dialogue
We invite colleagues to strengthen cooperation between the CIS countries and the MENA region at the MENA Rare Disease Congress, which will be held April 9–11, 2026 in Abu Dhabi.
The Congress, organized by Prof. Ayman El-Hattab and the MENA Organization for Rare Diseases are a key regional platform for clinicians, geneticists, researchers, patient organizations, regulators, and industry.
Focus:
• Genomic technologies and patient routing;
• Clinical management of rare diseases;
• Development of specialized care;
• International partnerships to accelerate access to innovation.
Program details and registration: menarare.com
Source and photo: link
Today, we celebrate an event that highlights the scale of his scientific contribution: the name of a new rare hereditary disease has been established in international clinical genetics: El-Hattab–Schmidts syndrome.
Clinical Characteristics
This is a rare autosomal recessive disease characterized by neurological impairments. The clinical picture develops from an early age and includes:
• general developmental delay;
• cognitive impairment;
• severe muscle hypotonia;
• impaired coordination and motor development;
• seizures in some cases;
• possible ophthalmological manifestations and changes according to neuroimaging data.
History of Description
The first clinically similar cases were identified and characterized by Prof. El-Hattab's team in the UAE in 2018. Subsequently, independent international verification and comparable observations, confirmed by a European group led by Schmidts, strengthened the evidence base and led to the syndrome's international recognition.
El-Hattab–Schmidts syndrome became the third disease to be named after Professor El-Hattab's contribution. Previously, the following were established in the literature:
• El-Hattab-Alkuraya syndrome (WDR45B-associated disorder);
• Suleiman-El-Hattab syndrome (SULEHS) (TASP1-associated syndrome).
This "triad" of eponyms is a rare marker of a sustainable contribution to the identification and clinical-genetic description of new syndromes.
Clinical Significance
Currently, there is no etiotropic or pathogenetic therapy. However, identifying the syndrome as an independent nosology and establishing its genetic cause makes possible:
• accurate molecular diagnostics;
• confirmation of the diagnosis;
• timely administration of symptomatic therapy and supportive care;
• development of registration and research programs.
Continuing the professional dialogue
We invite colleagues to strengthen cooperation between the CIS countries and the MENA region at the MENA Rare Disease Congress, which will be held April 9–11, 2026 in Abu Dhabi.
The Congress, organized by Prof. Ayman El-Hattab and the MENA Organization for Rare Diseases are a key regional platform for clinicians, geneticists, researchers, patient organizations, regulators, and industry.
Focus:
• Genomic technologies and patient routing;
• Clinical management of rare diseases;
• Development of specialized care;
• International partnerships to accelerate access to innovation.
Program details and registration: menarare.com
Source and photo: link
