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Disease Profile

Congenital rubella

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

P35.0

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Rubella congenital; Congenital rubella syndrome; CRS

Categories

Congenital and Genetic Diseases; Nervous System Diseases; Viral infections

Summary

Congenital rubella refers to the group of birth defects that occur in an infant whose mother is infected with the virus that causes German measles (rubella) during pregnancy. Congenital rubella occurs when the rubella virus in the mother affects the developing baby in the first 3 months of pregnancy. After the fourth month, if the mother has a rubella infection, it is less likely to harm the developing baby.[1] The most common problems are hearing loss due to damage to the nerve pathways from the inner ear to the brain (sensorineural hearing loss), ocular abnormalities (cataract, infantile glaucoma, and pigmentary retinopathy) and heart problems. Other symptoms and signs may include intrauterine growth retardation, prematurity, stillbirth, miscarriage, neurological problems (intellectual disability, low muscle tone, very small head), liver and spleen enlargement (hepatosplenomegaly), jaundice, skin problems, anemia, hormonal problems, and other issues.[2] 

The number of babies born with congenital rubella is much less since the rubella vaccine was developed. Pregnant women who are not vaccinated for rubella and who have not had the disease in the past risk infecting themselves and their unborn baby.[1][2]

Please visit the link from the Centers for Diseases Control and Prevention (CDC) to learn more about rubella vaccination: Rubella (German Measles) Vaccination

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Neurological speech impairment
Speech disorder
Speech impairment
Speech impediment

[ more ]

0002167
Sensorineural hearing impairment
0000407
30%-79% of people have these symptoms
Abnormality of retinal pigmentation
0007703
Abnormality of the fontanelles or cranial sutures
0000235
Abnormality of the pulmonary artery
Abnormality of lung artery
0004414
Anemia
Low number of red blood cells or hemoglobin
0001903
Aplasia/Hypoplasia of the iris
Absent/small iris
Absent/underdeveloped iris

[ more ]

0008053
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers

[ more ]

0001631
Glaucoma
0000501
Hepatomegaly
Enlarged liver
0002240
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation

[ more ]

0001249
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Microphthalmia
Abnormally small eyeball
0000568
Muscular hypotonia
Low or weak muscle tone
0001252
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Patent ductus arteriosus
0001643
Short stature
Decreased body height
Small stature

[ more ]

0004322
Skin rash
0000988
Spastic diplegia
0001264
Splenomegaly
Increased spleen size
0001744
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Thrombocytopenia
Low platelet count
0001873
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
Visual impairment
Impaired vision
Loss of eyesight
Poor vision

[ more ]

0000505
5%-29% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Corneal opacity
0007957
Jaundice
Yellow skin
Yellowing of the skin

[ more ]

0000952
Seizure
0001250
Type I diabetes mellitus
Type 1 diabetes
Type I diabetes

[ more ]

0100651

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The World Health Organization (WHO) produces guidelines and standards, helps countries to address public health issues, and supports and promotes health research. The WHO has developed a fact sheet on this condition.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

References

  1. Congenital Rubella. MedlinePlus. 2017; https://medlineplus.gov/ency/article/001658.htm.
  2. Ezike E. Pediatric Rubella Clinical Presentation.. Medscape Reference. 2017; https://emedicine.medscape.com/article/968523-clinical#showall.