Fraser Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Fraser Syndrome?
A geneticist (a doctor for inherited conditions) and a pediatrician often help lead the care team. It can include an eye doctor, a kidney doctor, an ear, nose and throat doctor, and a surgeon. A genetic counselor, who explains inherited risks, also helps. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is Fraser syndrome?
Fraser syndrome is a rare disorder that affects development before birth. Its main features are eyes covered by skin, skin joined between the fingers and toes, and differences in the genitals and urinary tract. It is believed to affect up to 1 in 250,000 newborns.
The features and how severe they are can vary widely from person to person. In severe cases, problems with the airway or kidneys can be fatal before or shortly after birth.
Symptoms
The most common sign is cryptophthalmos, which means the eyes are covered by skin. In most cases, both eyes are completely covered by skin. Other signs can include:
- Eyes that are very small or missing, which can cause partial or complete vision loss.
- Skin joined between the fingers and toes.
- One or both kidneys missing.
- Undescended testes, which means the testes have not moved down into the scrotum.
- External genitals that do not look clearly male or female.
- Heart problems.
- Problems with the voicebox or other parts of the upper airway.
- A cleft lip, with or without a cleft palate (an opening in the roof of the mouth).
- A blocked or narrow anus.
Intellectual disabilities sometimes occur, but many people with Fraser syndrome have normal intelligence.
Causes and who gets it
Fraser syndrome is caused by changes, called variants, in the FRAS1, FREM2, or GRIP1 genes. Changes in FRAS1 are the most common cause. These genes help the skin layers and some organs, including the kidneys, form properly before birth. In some people, no gene change can be found.
The condition is inherited in an autosomal recessive pattern. This means a child needs a changed copy of the gene from each parent. The parents usually carry one changed copy and typically show no signs of the condition.
How doctors diagnose it
Doctors diagnose Fraser syndrome using the physical findings, imaging, and gene tests. It is usually recognized at birth because the physical differences are easy to see. It can also be found before birth on an ultrasound, a scan that uses sound waves to make pictures. Some main features, such as eyes covered by skin and joined fingers or toes, can be hard to see on a prenatal ultrasound.
If the genitals do not look clearly male or female, doctors may do a chromosome test. They may also use imaging of the urinary and genital tract.
Treatment
Treatment depends on which body parts are affected. A baby with trouble breathing may need emergency surgery. Once the baby is stable, doctors may also look at appearance. Care often means a series of surgeries done in steps.
Surgery needs a team. It can include a facial surgeon, an ear, nose and throat specialist, a kidney doctor, and an eye doctor. How a child does over time depends on how serious the kidney and voicebox problems are.
When to see a doctor
Call 911 or go to the emergency room if a child has trouble or abnormal breathing, bluish or grey skin, or a lack of alertness.
If an ultrasound during pregnancy shows an eye problem or a missing kidney, ask about counseling at a specialty center. Families who are planning another pregnancy can ask about genetic counseling.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Such a doctor can do an evaluation, follow up over time, and help coordinate the many specialists involved.
Common questions
Is Fraser syndrome inherited?
Yes, it is passed down in families through an autosomal recessive pattern. If both parents carry a changed gene, each pregnancy has a 25% chance of an affected child.
Does Fraser syndrome affect intelligence?
Not always, because many people with Fraser syndrome have normal intelligence. Intellectual disabilities sometimes occur.
Can families plan ahead for Fraser syndrome?
Yes, genetic counseling can help at-risk families. A genetic test before birth is possible if the gene changes have already been found in the family.
How common is Fraser syndrome?
It is rare. It is believed to affect up to 1 in 250,000 newborns.
Sources
- MedlinePlus - Fraser syndrome: MedlinePlus Genetics
- PubMed Central (National Library of Medicine) - Fraser Syndrome: A Narrative Review Based on a Case from Vietnam and the Past 20 Years of Research
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
