Effectiveness of Physical Therapy in Cornelia De Lange Syndrome
Year: 2026
Type: conference-paper
Abstract: Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in various genes. It is mainly characterized by severe mental retardation, physical growth retardation, and abnormalities in the development of upper and lower limbs. According to various studies, CdLS is a multisystem disorder that affects physical, cognitive, and behavioral characteristics. For instance, in the USA about 3,800 cases have been registered, while EUROCAT data from 1980–2002 reported 106 cases among 8,558,346 births in Europe. The exact prevalence remains uncertain, though it is estimated to occur in approximately 1 in 10,000 live births, with some estimates suggesting 1 in 30,000. In Georgia, a total of 4 cases have been registered — 2 in Batumi and 2 in Tbilisi.This syndrome is still under investigation worldwide due to the small number of identified patients. As noted, currently there are 4 known cases in Georgia. One of these patients began treatment at 7 months of age when developmental delays became apparent. This article is primarily a review, with partial research elements, aiming to assist physical therapists and parents in focusing on early intervention to improve gross motor function, which in turn enhances the patient’s overall condition.
Author: Murvanidze, Eliso
Institution: University Geomedi
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7153496269
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