Fraser-like syndrome

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ORPHA:2051OMIM:229230
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Overview

Fraser-like syndrome is an extremely rare condition that shares many features with Fraser syndrome but does not fully meet the diagnostic criteria for that condition. It is sometimes called "cryptophthalmos-syndactyly-like syndrome" because it can involve features similar to those seen in Fraser syndrome, such as partial or complete fusion of the eyelids (cryptophthalmos), webbing or fusion of the fingers or toes (syndactyly), and abnormalities of the kidneys, genitals, and airways. However, patients with Fraser-like syndrome may have an incomplete or atypical set of these features, which makes diagnosis challenging. The condition is present from birth and can affect multiple organ systems. Some babies may have breathing difficulties due to narrowing or malformation of the larynx (voice box) or trachea (windpipe), which can be life-threatening. Kidney abnormalities, such as absent or underdeveloped kidneys, may also occur. Genital malformations are common and can vary widely between affected individuals. Because Fraser-like syndrome is so rare, there is no specific cure or targeted treatment. Management focuses on treating individual symptoms and complications as they arise. Surgery may be needed for eye, limb, airway, or genital abnormalities. A team of specialists is usually involved in care. Early diagnosis and coordinated medical support can improve quality of life, though the outlook depends heavily on which organs are affected and how severely.

Key symptoms:

Partial or complete fusion of the eyelids (cryptophthalmos)Webbing or fusion of fingers or toes (syndactyly)Kidney abnormalities, including absent or underdeveloped kidneysGenital malformationsNarrowing or malformation of the airway (larynx or trachea)Breathing difficulties at birthEar abnormalities or hearing lossWidely spaced eyesAbnormal hairline extending to the foreheadNose abnormalitiesAmbiguous genitaliaUnderdeveloped lungsIntellectual disability in some casesUmbilical hernia

Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Fraser-like syndrome.

View clinical trials →

No actively recruiting trials found for Fraser-like syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Fraser-like syndrome community →

No specialists are currently listed for Fraser-like syndrome.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Financial Resources

1 resources

Deferasirox

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Patient Assistance
Manufacturer Program
Accepting applications

Travel Grants

No travel grants are currently matched to Fraser-like syndrome.

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Community

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Latest news about Fraser-like syndrome

No recent news articles for Fraser-like syndrome.

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which organs are affected in my child's case, and how severely?,What surgeries or procedures might be needed, and when?,Should we pursue genetic testing, and what can it tell us?,What is the long-term outlook for my child based on their specific features?,What early intervention or developmental support services should we start?,Are there any emergency situations we should be prepared for at home?,Is genetic counseling available to help us understand the risk for future pregnancies?

Common questions about Fraser-like syndrome

What is Fraser-like syndrome?

Fraser-like syndrome is an extremely rare condition that shares many features with Fraser syndrome but does not fully meet the diagnostic criteria for that condition. It is sometimes called "cryptophthalmos-syndactyly-like syndrome" because it can involve features similar to those seen in Fraser syndrome, such as partial or complete fusion of the eyelids (cryptophthalmos), webbing or fusion of the fingers or toes (syndactyly), and abnormalities of the kidneys, genitals, and airways. However, patients with Fraser-like syndrome may have an incomplete or atypical set of these features, which make

How is Fraser-like syndrome inherited?

Fraser-like syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Fraser-like syndrome typically begin?

Typical onset of Fraser-like syndrome is neonatal. Age of onset can vary across affected individuals.

What treatment and support options exist for Fraser-like syndrome?

1 patient support program are currently tracked on UniteRare for Fraser-like syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.