Congenital rubella syndrome (CRS) is a group of birth defects that occur in a baby whose mother was infected with the virus that causes German measles (rubella) during pregnancy.¹ Maternal rubella infection can lead to spontaneous miscarriage, fetal infection, stillbirth, fetal growth restriction or the birth of a child with CRS.² The most common defects associated with CRS are deafness, ocular abnormalities and heart problems. There may be other complications associated with CRS, some of which may occur later in life.

The incidence of babies born with CRS has reduced since the development of the rubella vaccine. In Australia, the rubella vaccine is available as the measles, mumps and rubella (MMR) or with varicella (MMRV) vaccines. MMR vaccination is part of the National Immunisation Program (NIP) Schedule and recommended for all women of child-bearing age who have no or low antibody levels to rubella (seronegative).³ Risk groups in Australia more likely to be seronegative include women born overseas who have not been vaccinated, Aboriginal and Torres Strait Islander women from rural and remote communities, and women 35 years of age or older who may have declining immunity.² Rubella vaccination is contraindicated for women who are already pregnant, which means women should not receive the vaccination during pregnancy.³

Synonyms: fetal rubella syndrome; mother-to-child transmission of rubella syndrome.¹

Universal rare disease classifications provide a common language for recording, reporting and monitoring diseases. Please visit the Rare Disease Classifications page for more information about these internationally recognised classifications.

ORPHA:290 Congenital rubella syndrome

ICD-11: KA62.8 Congenital rubella syndrome

Babies with CRS may be born premature and have jaundice, low muscle tone, small head and enlarged liver and spleen (hepatosplenomegaly). The most common features of CRS include deafness, ocular abnormalities such as cataracts, infantile glaucoma and pigmentary retinopathy, and heart (cardiac) defects.^1,2  There may also be inflammation of the brain, intellectual disability, thrombocytopenic purpura, haemolytic anaemia as well as complications that could occur later in life, such as pneumonitis, diabetes, thyroid dysfunction, and progressive panencephalitis.^1,2 

It is best to speak to your medical team to learn more about the features and complications of CRS.

Rare diseases are often serious and progressive, exhibiting a high degree of symptom complexity, leading to significant disability. Majority of the estimated two million Australians living with a rare disease meet the Australian Government’s definition for disability (in accordance to the Australian Public Service Commission and Australian Bureau of Statistics), and many experience severe and permanent disability impacts. If you or someone you care for is experiencing disability-related impacts from a rare condition, please speak with a health or disability professional for advice. Information about relevant disability support can be found at the RARE Portal’s Disability Support Information page.

A rubella infection during pregnancy can result in a baby being born with CRS.¹ The risk of CRS in the developing baby is higher if the mother has a rubella infection within the first 3-4 months of pregnancy. ^1,2 A rubella infection after 4^th month of pregnancy is less harmful to the developing baby.

Diagnosis of rubella infection can be made through a blood test for rubella antibodies.

Infants born with abnormalities, such as deafness, mental retardation, heart defects and cataracts, may have had an undetected rubella infection acquired before birth.⁴ Antibody testing can be used to confirm a CRS diagnosis.

Pregnant women who have been in contact with rubella or who have clinical features consistent with rubella-like illness should be tested. Pregnant women who test positive for a rubella infection should be offered counsel by their medical team about the risks to the fetus and options for management of rubella, including management in infants and information about CRS.⁴

In cases where maternal rubella infection has been detected or suspected, fetal diagnosis can be made by antenatal testing.⁴ Please consult your medical team to find out more about the antenatal testing available for specific stages of pregnancy and the risks involved. Newborns should be examined for clinical features of CRS and tested for the rubella infection by antibody testing, viral polymerase chain reaction (PCR) tests and swabs.

More information about rubella antibody tests can be found at Pathology Tests Explained: Rubella.

Newborns who have tested positive to the rubella virus should have ophthalmology, cardiac and hearing assessments following birth.⁴ They should also have further follow-up assessments every 3 to 6 months for the first 12 months of their life to detect any emerging abnormalities, such as deafness, neurological deficiencies, epilepsy, cataracts, retinopathy, tooth defects and growth restriction.

Please speak to your medical team to learn more about the possible treatment or management options for your condition. Treatment will depend on an individual’s specific condition and symptoms. It is also important to stay connected to your medical team so that you can be made aware of any upcoming clinical trial opportunities.

Clinical care for rare diseases often involves a multidisciplinary team of medical, care and support professionals. Please note that the information provided here is as a guide and that RVA does not necessarily monitor or endorse specific clinics or health experts.

Healthcare professionals involved in the treatment of CRS may include general practitioners (GP), paediatricians, infectious disease specialists, ophthalmologists (eye specialists), and neurologists. The need for different healthcare professionals may change over a person’s lifetime and may extend beyond those listed here.

There is an available practice guideline prepared by SA Health (SA Maternal & Neonatal Clinical Network) – Rubella infection in pregnancy (in South Australian Perinatal Practice Guidelines); please note that this was last updated in 2015.

Individuals living with rare diseases may have complex medical issues and disabilities, which are not always visible. It is often useful to refer to their medical history as well as personal information such as a medical card, doctor’s letter, or if available, a rare disease passport, for relevant information.

There are specific considerations around participating in rare disease research, including clinical trials. It is important to be mindful of issues such as data privacy, research ethics, consent and differences in research regulations between Australia and other countries.

If you are interested in finding clinical trials for your condition, please visit the following websites; however, there may not be any clinical trials available:

• Australian Clinical Trials
• ClinicalTrials.gov

It is best to discuss your interest in any clinical trials with your medical team to determine suitability and eligibility.

Please note that RVA does not necessarily monitor or endorse each group/organisation’s operational governance and activities.

We are not aware of any rare disease organisations for CRS in Australia. If you know of any rare disease organisation supporting people living with CRS, please let us know via the Contribute page. If you are interested in starting an Australian organisation, please see Engaged, Ethical and Effective: A Guide for Rare Disease Organisation Leaders in Australia.

Please note that RVA does not monitor or endorse each group/organisation’s operational governance and activities. When engaging with a group, please consider the information on the RARE Portal’s Finding Helpful Peer and Community Supports page.

CRS varies between individuals, and each person’s experience is unique.

If you would like to share your personal story with RVA, please visit the Rare Voices Australia: Share Your Story page. RVA will consider your story for publishing on our website and inclusion on the RARE Portal.

For information on available government and social services that provide support for individuals with a rare disease, please visit the National and State Services pages.

People living with a rare disease, including families and carers, often face unique challenges such as diagnostic delays, misdiagnoses, limited treatment options, and limited access to rare disease specialists and support. These challenges may impact people’s emotional wellbeing and quality of life. Many people find it helpful to seek mental health and wellbeing support to cope with ongoing stress and uncertainty. Connecting with people who have shared experiences through a support group may also be helpful. Information about relevant mental health and wellbeing support can be found at:

• Mental Health and Wellbeing Support for Australians Living with a Rare Disease
• The National and State Services pages underneath the ‘Mental Health’ sections listed

Further information about CRS can be found at:

• Genetic and Rare Diseases (GARD) Information Center: Congenital rubella syndrome

Below is some information on rubella:

Rubella is a nationally notifiable disease, which means medical practitioners or laboratories are required, by law, to report cases of rubella infection detected in pregnant women to their local health department/Public Health Unit.

Further information about rubella vaccination, including other contraindications, can be found in The Australian Immunisation Handbook: Rubella vaccine, Australian Government Department of Health resource on Rubella.

Measles & Rubella Initiative is a global partnership to stop measles and rubella, which is led by the American Red Cross, the United Nations Foundation, the U.S. Centers for Disease Control and Prevention, United Nations Children’s Fund (UNICEF) and the World Health Organization.

• GeneReviews®: Hereditary Hearing Loss and Deafness Overview
• Orphanet: Congenital Rubella Syndrome
• Human Phenotype Ontology (HPO): Congenital Rubella Syndrome

This page has been developed by Rare Voices Australia (RVA)’s RARE Portal team.

If you are aware of any additional information that may benefit stakeholders with an interest in this page, or if you notice any broken links or inaccurate information, please let us know via the Contribute page.