Cornelia De Lange Syndrome in the International Classification of Functioning, Disability and Health Perspetive: A Case Report

Abstract

Background: Cornelia de Lange syndrome (CdLS) is a genetic disorder featured by multi-systemic malformations, such as microcephaly, hypertrichosis, upper limb defects, growth retardation, developmental delay, and a variety of associated malformations. Multidisciplinary and holistic care is needed in the management and rehabilitation of individuals with CdLS. One of the tools that can be used as a clinical measurement in holistic care is the International Classification of Functioning, Disability, and Health (ICF). Objective: To provide a holistic approach and intervention by using the ICF assessment in CdLS individuals. Case: A 53-month-old boy was admitted to Physical Medicine and Rehabilitation outpatient clinic of Primasatya Husada Citra (PHC) hospital of Surabaya in February 2021, due to global developmental and growth delay. The patient had low body weight and short stature.  The patient had thick eyebrows, a short nose, a concave nasal ridge, thin upper lip vermillion, smooth philtrum, and small hands with small fifth fingers. Was only able to say several words, and it was not clearly pronounced. During the daily activity, he had difficulty going downstairs and wearing his socks, long pants, and shirt. Attended pre-school, had difficulties with speaking, reading, and focusing attention. Conclusion: ICF can help physicians to assess a patient’s condition thoroughly, to set goals, and to provide condition-appropriate treatment and rehabilitation programs for CdLS patients.