Rare Disease Day at NIH Logo
Registration for this year's Rare Disease Day at NIH is now open!
Rare Disease Day at NIH Logo
Registration for this year'sRare Disease Day at NIH is now open!
Rare Disease Day at NIH Logo
Registration for this year'sRare Disease Day at NIH is now open!
Questions about rare diseases?

Disease at a Glance

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. 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. 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. Some of the birth defects associated with Fetal retinoid syndrome may be diagnosed by ultrasound during pregnancy. Currently, public health programs exist to help reduce the chance that a woman will use retinoids if she is considering getting pregnant.
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. 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. 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. Some of the birth defects associated with Fetal retinoid syndrome may be diagnosed by ultrasound during pregnancy. Currently, public health programs exist to help reduce the chance that a woman will use retinoids if she is considering getting pregnant.
Read More
Resource(s) for Medical Professionals and Scientists on This Disease:
This section is currently in development.

About Fetal retinoid syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:This section is currently indevelopment.
  • Symptoms:This section is currently in development.
  • Cause:GARD does not currently have information about the cause of this disease.
  • Organizations:GARD is not currently aware of organizations specific to this disease.
When Do Symptoms of Fetal retinoid syndrome Begin?
This section is currently in development. 

Symptoms

This section is currently in development. 

Causes

This section is currently in development. 

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Read More

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2024