Congenital anomalies and rare diseases

The National Congenital Anomaly and Rare Diseases Registration Services (NCARDRS) is one of 2 disease registration services within the National Disease Registration Service (NDRS).

NCARDRS records people with congenital anomalies and rare diseases across the whole of England.

This registration service:

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

NDRS has expanded congenital anomaly and rare disease registration to cover the whole population of England. This is to meet national requirements for high quality public health disease surveillance identified by the Chief Medical Officer.

One in 50 babies is born with a congenital anomaly. This is the term used to describe conditions such as cleft palate, spina bifida and Down’s syndrome.

Congenital anomalies are defined as being present at delivery, originating before birth. They include structural, chromosomal and genetic anomalies. Screening during pregnancy can detect some congenital anomalies, while some are found at birth. Others are detected as a baby grows older.

You can read more about congenital anomalies in NCARDRS publications, such as annual statistics on congenital anomalies.

Rare diseases affect a small number of people, which means they can be difficult to diagnose, treat or prevent. A disease is considered rare when it affects no more than one person in 2,000.  It is estimated that there are more than 7000 rare diseases, with new conditions continuing to be identified as research and our understanding improves. Approximately 80% of rare diseases have an underlying genetic cause.

Although rare diseases are individually rare they are collectively common. One in 17 people - or 3.5 million people in the UK - will be affected by a rare disease at some point in their lifetime. Rare diseases disproportionately affect children and can be both life-limiting and life-threatening; 75% of rare diseases affect children and more than 30% of children with a rare disease will die before their fifth birthday.

The UK Rare Disease Framework outlines the UK government priorities for improving care for people living with rare conditions:

• 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

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 will implement the UK Rare Diseases Framework in England.

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

Rare diseases news and updates

Launch of the Rare Disease Data Set (RRDS)

In 2025 NDRS launched a new Rare Disease Data Set (RDDS)  to enhance efficiency and scalability, as well as promoting consistency and standardisation of rare disease registration. This approach ensures timely and streamlined collection of vital rare disease data whilst minimising administrative burden for providers.  

England Rare Disease Action Plan 2025

In February, the Department of Health and Social Care (DHSC) launched the fourth England rare disease action plan, to complement the 2021 UK Rare Disease Framework, setting out how the Department of Health and Social Care and delivery partners will implement the framework and provides new actions and and updates on the previous action plans. And NDRS is an important action plan delivery partner. 

Rare Conditions Registration Statistics

NDRS is committed to providing information to support service planning and treatment improvements for people with a rare disease in England, and will update the Rare Conditions Registration Statistics annually, updating previous year calculations and including additional conditions.  

Future updates

To receive news and updates from the Rare Disease team please sign up to our subscriber list below. 

After the initial pilot period, we are now reviewing the best approach to support self-registration of rare diseases, and NHS England will share more information on this in due course.

To receive news and updates from the Rare Disease team please sign up to our subscriber list above. 

If you do not live in England and you are not treated in England, unfortunately we are unable to collect your details, however the information below might be helpful:

• Northern Ireland - information for Northern Ireland residents can be found on the Northern Ireland Rare Disease Partnership website or by emailing [email protected] 
• Scotland - information for residents in Scotland can be found on the Public Health Scotland website or by emailing [email protected] 
• Wales - information about the Congenital Anomaly Register and Information Service for Wales (CARIS) can be found on the CARIS website or by e-mailing [email protected] 
• outside of the United Kingdom - for information for any country outside of the UK please contact your doctor or local health service

If you or a person you care for has a rare condition, the following organisations might be able to provide help and support.

Genetic Alliance: Supporting people with genetic, rare and undiagnosed conditions in the UK.

Website: Genetic Alliance UK

E-mail: [email protected] 

Phone: 0300 124 0441

Rare disease UK (part of Genetic Alliance): The national campaign for people with rare diseases and all who supported them.

Website: Rare Disease UK - Genetic Alliance

E-mail: [email protected] 

Phone: 0300 124 0441

SWAN UK - Syndrome Without a Name (part of Genetic Alliance): A dedicated support network in the UK for families affected by a syndrome without a name - a genetic condition so rare it often remains undiagnosed.

Website: SWAN UK (Syndromes Without a Name) - Genetic Alliance

E-mail: [email protected]

Phone: 0300 124 0441

Unique: Uniques mission is to inform, support and alleviate the isolation anyone affected by a rare chromosome disorder or an autosomal dominant single gene disorder and raise public awareness.

Website: Unique | Understanding Rare Chromosome and Gene Disorders

E-mail: [email protected]

Phone 01883 723356

PALS: The Patient Advice and Liason Service (PALS) offers confidential advice, support and information on health-related matters. They provide a point of contact for patients, their families and their carers.

Website: What is PALS (Patient Advice and Liasion Service)? - NHS

The national service collects data onto a single secure data management system for England.

The national service incorporates

• 7 historical regional congenital anomaly registers
• the National Down Syndrome Cytogenetic Register (NDSCR)
• the British Isles Network of Congenital Anomaly Registers (BINOCAR) hub

New regional teams have been established in parts of the country where there had previously been no data collection. The service has 9 regional offices. Find your local NCARDRS office.

If you are a clinician and you wish to report data to NCARDRS, please contact [email protected]  for further information. 

Rare diseases genomics education programme: Rare disease education hub - Genomics Education Programme.

Select the box below to find out more about the data we collect and how to send it to us.