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Congenital anomalies and rare diseases

Find out more about the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS) - one of the 2 disease registration services within the National Disease Registration Service (NDRS)

Introduction

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.


Congenital anomalies

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

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.

Collectively rare diseases are not rare. One in 17 people will be affected by a rare disease at some point in their life. This is about 3.5 million people in the UK.

Read more about the UK Rare Diseases Framework on GOV.UK.

Read more about the England Rare Diseases Action Plan on GOV.UK


NCARDRS regional teams

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.


Guidance for notifiers

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

Last edited: 27 February 2024 3:36 pm