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‘KAT6A Syndrome’ was discussed in the context of social contribution


Istanbul Medipol University School of Health Sciences Department of Physical Therapy and Rehabilitation drew attention to ‘KAT6A Syndrome’ for the ‘Rare Diseases Day’ with the support of the Social Contribution Commission.


An event titled “Awareness Program for Rehabilitation Professionals in a Rare Disease” was organized by Istanbul Medipol University School of Health Sciences Department of Physical Therapy and Rehabilitation. In the program held with the support of Istanbul Medipol University Social Contribution Commission, attention was drawn to ‘KAT6A Syndrome’. Prof. Z. Candan Algun, Assoc. Prof. Devrim Tarakçı, Assoc. Prof. Hande Kaymakçalan Çelebiler, Assoc. Prof. Ali Şeker, and Aysun Zeren Kangı, the parent of a child with KAT6A Syndrome, as well as academics and students attended the program held at the South Campus Conference Hall.

Delivering the opening speech of the event, Lecturer Merve Manga said that there is not much information about KAT6A Syndrome in open sources. Stating that 500 people in the world have been diagnosed with this condition, Manga said: “Although KAT6A shows different characteristics in each individual, it can cause developmental delay, intellectual disability, and cardiac malformations, as well as auto-motor dyspraxia, gastrointestinal problems, hypotonia, immunological differences, eye diseases, feeding difficulties, behavioral problems, and sleep problems. Individuals with KAT6A also have distinctive facial features, such as bi-temporal narrowing, prominent nasal bridge, and a short and straight philtrum. There are currently 500 known individuals with KAT6A. In Türkiye, there are 6 children diagnosed with KAT6A. Istanbul Medipol University Department of Physical Therapy and Rehabilitation and Department of Ergotherapy provide evaluation, treatment, and long-term follow-up of these children.”


Son Güncelleme Tarihi: 01/03/2024 - 13:20