Epidemiological Insights in Cornelia-de-Lange Syndrome: A Systematic Literature Review
Author(s)
Ankita Sood, PharmD1, Gagandeep Kaur, MPharm2, Barinder Singh, RPh3;
1Pharmacoevidence, SAS, India, 2Pharmacoevidence, SAS Nagar Mohali, India, 3Pharmacoevidence, LONDON, United Kingdom
1Pharmacoevidence, SAS, India, 2Pharmacoevidence, SAS Nagar Mohali, India, 3Pharmacoevidence, LONDON, United Kingdom
Presentation Documents
OBJECTIVES: Cornelia de Lange syndrome (CdLS) is a severe congenital disorder affecting multiple organ systems, characterized by hirsutism, intellectual disability, prenatal/postnatal growth retardation, and distinctive facial features. The objective of this study was to investigate the incidence, prevalence, and mortality rates associated with CdLS
METHODS: A systematic search was performed across Embase® and MEDLINE® from database inception to 2024 to identify relevant CdLS studies reporting epidemiological data. The review followed the standard methodology for conducting SLR as per guidelines provided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).
RESULTS: The SLR included five of 227 screened publications (Europe=4; US=1) covering prevalence (n=3), mortality (n=2), and incidence/risk factors (n=1). The population prevalence of CdLS patients ranged from 0.5/100000 in 1976 to 1.6-2.2/100,000 between 1980-2002, whereas an incidence figure of 1:50,000 was reported for the years 1967-82. Compared to the general population, patients with CdLS had a significantly higher mortality rate (76% vs. 29%; p<0.001). Moreover, the total observed deaths were 2.8 and 2.9 times higher than expected for females and males, with raised mortality reported among the boys aged 0-4 years compared to boys aged>15 years (observed/expected number of deaths: 8.9 vs. 1.4). The primary causes of death were attributed to pneumonia, congenital heart defects, and gastrointestinal complications. Across two studies, the major anomalies associated with CdLS included limb deficiency, followed by congenital heart disease, craniofacial alterations, and genital defects. Additionally, severe limb anomalies occurred more significantly in males compared to females (p=0.007) and in patients with low birth weight ≤2,500 g (p=0.002).
CONCLUSIONS: CdLS became more commonly recognized or diagnosed over the years, as reflected by the increasing prevalence rates. Further research is needed on CdLS mortality and risk factors which would aid in developing new diagnostic and treatment strategies.
METHODS: A systematic search was performed across Embase® and MEDLINE® from database inception to 2024 to identify relevant CdLS studies reporting epidemiological data. The review followed the standard methodology for conducting SLR as per guidelines provided by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).
RESULTS: The SLR included five of 227 screened publications (Europe=4; US=1) covering prevalence (n=3), mortality (n=2), and incidence/risk factors (n=1). The population prevalence of CdLS patients ranged from 0.5/100000 in 1976 to 1.6-2.2/100,000 between 1980-2002, whereas an incidence figure of 1:50,000 was reported for the years 1967-82. Compared to the general population, patients with CdLS had a significantly higher mortality rate (76% vs. 29%; p<0.001). Moreover, the total observed deaths were 2.8 and 2.9 times higher than expected for females and males, with raised mortality reported among the boys aged 0-4 years compared to boys aged>15 years (observed/expected number of deaths: 8.9 vs. 1.4). The primary causes of death were attributed to pneumonia, congenital heart defects, and gastrointestinal complications. Across two studies, the major anomalies associated with CdLS included limb deficiency, followed by congenital heart disease, craniofacial alterations, and genital defects. Additionally, severe limb anomalies occurred more significantly in males compared to females (p=0.007) and in patients with low birth weight ≤2,500 g (p=0.002).
CONCLUSIONS: CdLS became more commonly recognized or diagnosed over the years, as reflected by the increasing prevalence rates. Further research is needed on CdLS mortality and risk factors which would aid in developing new diagnostic and treatment strategies.
Conference/Value in Health Info
2025-05, ISPOR 2025, Montréal, Quebec, CA
Value in Health, Volume 28, Issue S1
Code
EPH84
Topic
Epidemiology & Public Health
Disease
STA: Genetic, Regenerative & Curative Therapies