Authors:
- Miroslav Katinić, Faculty of Health Studies, University of Rijeka, Department of Physiotherapy, Rijeka, Croatia
- Petar Lendl, Faculty of Health Studies, University of Rijeka, Department of Physiotherapy, Rijeka, Croatia
Article type:
Case Report
Abstract:
Cornelia de Lange syndrome is a rare and clinically variable disorder affecting multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. The syndrome was first described by Dutch pediatrician Cornelia Catharina de Lange. Prevalence is estimated between 1:62,500 and 1:45,000 in the general population, affecting both sexes equally. This paper presents a classic case of Cornelia de Lange syndrome in a one-year-old boy exhibiting common features such as heart defects, bone hypoplasia, oligodactyly, synophrys, cryptorchidism, and hirsutism. Treatment and habilitation should involve an interdisciplinary team aiming to reduce disability and maximize the child’s potential in society. Physiotherapy plays a crucial role in prevention, timely referral, and habilitation, which is essential in managing children with Cornelia de Lange syndrome.
Keywords:
Cornelia de Lange syndrome, hirsutism, oligodactyly, bone hypoplasia