Rare Pulmonology News

Disease Profile

Congenital cytomegalovirus

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Neonatal

ICD-10

P35.1

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)

Fetal cytomegalovirus syndrome

Categories

Congenital and Genetic Diseases; Nervous System Diseases; Newborn Screening

Summary

Congenital cytomegalovirus (congenital CMV) is a group of symptoms that may occur when an infant is infected with the cytomegalovirus before birth. Most infants who are infected with the virus never develop symptoms of the condition. However, approximately 10% of babies will experience health problems and/or disabilities such as problems with the lungs, liver and/or spleen at birth; hearing loss; vision loss; intellectual disability; seizures; small head size; and/or lack of coordination. Some babies with the condition may have evidence of infection at birth, while others may not develop symptoms for two or more years. Congenital CMV occurs when a mother is infected with cytomegalovirus during pregnancy and passes the infection to the fetus through the placenta. Treatment is based on the signs and symptoms present in each person.[1][2][3]

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
Abnormality of vision
Abnormality of sight
Vision issue

[ more ]

0000504
Sensorineural hearing impairment
0000407
30%-79% of people have these symptoms
Abnormality of coagulation
0001928
Anemia
Low number of red blood cells or hemoglobin
0001903
Hepatomegaly
Enlarged liver
0002240
Splenomegaly
Increased spleen size
0001744

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      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

      • You can obtain information on this topic from the Centers for Disease Control and Prevention (CDC). The CDC is recognized as the lead federal agency for developing and applying disease prevention and control, environmental health, and health promotion and education activities designed to improve the health of the people of the United States.
      • Mayo Clinic has an information page on Congenital cytomegalovirus.
      • 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 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.

        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.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital cytomegalovirus. Click on the link to view a sample search on this topic.

          References

          1. Congenital cytomegalovirus. MedlinePlus. May 2013; https://www.nlm.nih.gov/medlineplus/ency/article/001343.htm.
          2. Mark R Schleiss, MD. Pediatric Cytomegalovirus Infection. Medscape Reference. January 2015; https://emedicine.medscape.com/article/963090-overview.
          3. Congenital CMV Infection. Centers for Disease Control and Prevention. July 2010; https://www.cdc.gov/cmv/congenital-infection.html.