Congenital conditions and rare diseases

The National Congenital Conditions and Rare Disease Registration Service (NCARDRS) is a comprehensive registration service that collects, curates, quality assures and analyses data about individuals identified with rare and congenital conditions across the whole of England. It is one of the largest active rare disease registration services in the world.

A rare disease is defined as a condition which affects fewer than 1 in 2,000 people. There are between 6,000 and 8,000 known rare diseases, and approximately 80% of these are thought to have a genomic cause. Although rare diseases can present at any age, approximately 75% affect children, and around 30% of children with a rare disease die before the age of five. Rare diseases can also present to virtually any medical speciality and often have highly variable clinical features, making diagnosis challenging.  As a result, many patients experience a prolonged ‘diagnostic odyssey’, involving multiple referrals, repeated investigations, misdiagnoses and significant delays before receiving an accurate diagnosis. This makes data collection difficult.

Congenital conditions are defined as a condition present at birth and include structural and genomic conditions (including chromosomal and single-gene disorders). Some congenital conditions are detected during pregnancy, some are found at birth, while others are diagnosed only as a baby grows older. Most congenital conditions are considered rare diseases. 

NCARDRS was established on 1 April 2015 in response to the UK Rare Disease Strategy and the Chief Medical Officer’s recommendation to ensure nationwide coverage of congenital condition registration with expansion to rare diseases. NCARDRS was fully embedded within the National Disease Registration Service (NDRS) in March 2020.

Find out about the NDRS, our teams and services.

NDRS aims to provide the following benefits for patients and the public to:

• provide a resource for clinicians to support high quality clinical practice
• support and empower patients and carers, by providing information relevant to their disease or condition
• provide epidemiology and monitoring of the frequency, nature, cause and outcomes of these conditions
• support research into congenital conditions, rare diseases and precision medicine including basic science, cause, prevention, diagnostics, treatment and management
• inform the planning and commissioning of public health, and health and social care provision
• provide a resource to monitor, evaluate and audit health and social care services, including the efficacy and outcomes of screening programmes

Discover more about our work in congenital condition and rare diseases.

NDRS is a key delivery partner for the UK Rare Diseases Framework (2021-2027) which sets out government's long-term commitment to improving the lives of people living with rare diseases.

The priorities of the Framework are to:

• helping patients get a final diagnosis faster
• increasing awareness of rare diseases among healthcare professionals
• better coordination of care
• improving access to specialist care, treatments and drugs

NDRS is fundamental to this ambition, providing the national data infrastructure that makes rare disease patients findable in the system.

You can read more about the UK Rare Diseases Framework on GOV.UK.

The England Rare Disease Action Plan sets out how the Department of Health and Social Care and delivery partners including NDRS, will implement the UK Rare Diseases Framework in England.

You can read more about the England Rare Disease Action Plan on GOV.UK