Paradoxically, rare diseases are common, collectively affecting 6–10% of the population and
have a huge impact on patients and families, health services, clinicians and the wider …

Abstract Background The World Health Organisation (WHO) estimates that 100–140 million
girls and women have undergone female genital mutilation or cutting (FGM/C). FGM/C is an …

Background The COVID-19 pandemic and its mitigation measures and impacts, such as
shelter-in-place orders, social isolation, restrictions on freedoms, unemployment, financial …

Background Families of children living with a rare disease report significant health and
social burden, however, few studies have systematically examined family needs by using …

Objective: To collect nationally representative epidemiological data on early‐onset eating
disorders (EOEDs) in children. Design: Prospective, active surveillance using the Australian …

Background Food protein–induced enterocolitis syndrome (FPIES) is a non–IgE-mediated
gastrointestinal allergic disorder. Large population-based FPIES studies are lacking …

Background Children and families living with rare disease often experience significant
health, psychosocial, economic burdens and diagnostic delays. Experiences appear to be …

Objective: To determine the incidence of and factors associated with vitamin D deficiency
rickets in Australian children. Design: 18‐month questionnaire‐based prospective …

Background Recurrent respiratory papillomatosis is a rare but morbid disease caused by
human papillomavirus (HPV) types 6 and 11. Infection is preventable through HPV …

Background: Approximately 8% of the Australian population live with any one of about
10,000 known rare diseases. This is similar to the proportion of people living with diabetes …