Rare Pulmonology News

Disease Profile

Fetal retinoid syndrome

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

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ICD-10

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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)

Isotretinoin embryopathy; Accutane-exposed pregnancies; Isotretinoin (RoAccutane) embryopathy;

Categories

Congenital and Genetic Diseases

Summary

Fetal retinoid syndrome is a characteristic pattern of physical birth defects in a baby that has been exposed to retinoids during pregnancy. The best-known retinoid is isotretinoin (Accutane), a drug used to treat severe cystic acne.[1] 

Babies exposed to retinoids during pregnancy may have a wide variety of symptoms. Some may have no symptoms at all, others may have only intellectual and learning problems, while others will have very severe symptoms.[1][2]

Birth defects associated with retinoid exposure include: 
Growth delay
Excess fluid around the brain (hydrocephalus)
Abnormally small head size (microcephaly)
Intellectual and learning disabilities
Ear and eye abnormalities
A split in the roof of the mouth (cleft palate) and other facial differences
Heart defects.

It is thought that 20-35% of fetuses exposed to retinoids during pregnancy will develop some of these birth defects.

Retinoids can cause these birth defects in the early weeks of pregnancy, even before a woman knows that she is pregnant.[2] Some of the birth defects associated with fetal retinoid syndrome may be diagnosed by ultrasound during pregnancy.[3] 

No treatment exists for fetal retinoid syndrome. Babies born with this condition are treated based on their symptoms. Currently, public health programs exist to help reduce the chance that a woman will use retinoids if she is considering getting pregnant.[4]

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

  • The March of Dimes provides information about fetal retinoid syndrome. Click on the above link to access this information.
  • 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

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

References

  1. Fetal Retinoid Syndrome. National Organization for Rare Disorders (NORD). 2003; https://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Fetal%20Retinoid%20Syndrome. Accessed 4/9/2010.
  2. Accutane (Isotretinoin) and Other Retinoids. March of Dimes. 2008; https://www.marchofdimes.com/professionals/14332_1168.asp. Accessed 4/9/2010.
  3. Erenel H, Ozel A, Oztunc F, Kizikilic O, Comunoglu N et al.. Antenatal diagnosis of fetal retinoid syndrome at 20 weeks gestation: A case report. Fetal Pediatr Pathol. May 2018; 29:1-5. https://www.ncbi.nlm.nih.gov/pubmed/29843537.
  4. Kovitwanichkanont T, Driscoll T. A comparative review of the isotretinoin pregnancy risk management programs across four continents.. Int J of Derm. 2018; 57(9):1035-1046. https://www.ncbi.nlm.nih.gov/pubmed/29508918.