Braddock syndrome

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ORPHA:52047OMIM:608406Q87.8
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Overview

Braddock syndrome is a very rare condition present from birth that affects multiple parts of the body at the same time. It is also sometimes referred to in medical literature by its features rather than a single widely-used synonym. The condition is characterized by a combination of physical differences that can include problems with the face and head shape, the heart, the limbs, and intellectual development. Because so few cases have been reported worldwide, doctors are still learning about the full range of symptoms and how the condition changes over time. People with Braddock syndrome may have distinctive facial features, heart defects, and differences in how their arms or legs are formed. Some individuals also experience delays in learning and development. The heart problems, if present, can range from mild to more serious and often require early medical attention. Limb differences may affect how a person moves and may need support from physical or occupational therapists. There is currently no cure for Braddock syndrome. Treatment focuses on managing each symptom as it appears. This means a team of different specialists — such as heart doctors, developmental pediatricians, and geneticists — usually work together to support the person and their family. Early intervention programs and therapies can make a meaningful difference in quality of life.

Also known as:

Key symptoms:

Distinctive facial features such as unusual head shape or facial structureHeart defects present at birthDifferences in limb formation (arms or legs may be shorter or shaped differently)Intellectual disability or learning difficultiesDelayed development of motor skills such as sitting or walkingShort statureFeeding difficulties in infancyHearing problems in some individualsVision problems in some individuals

Clinical phenotype terms (24)— hover any for plain English
Missing ribsHP:0000921HemivertebraeHP:0002937
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

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 Braddock syndrome.

View clinical trials →

No actively recruiting trials found for Braddock syndrome at this time.

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

Search ClinicalTrials.gov ↗Join the Braddock syndrome community →

No specialists are currently listed for Braddock 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

Travel Grants

No travel grants are currently matched to Braddock syndrome.

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Community

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Latest news about Braddock 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.What specific features of Braddock syndrome does my child have, and which ones need the most urgent attention?,Should we do whole exome or whole genome sequencing to look for a genetic cause?,What heart monitoring does my child need, and how often?,What therapies — such as physical, occupational, or speech therapy — would benefit my child most right now?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt us to seek emergency care?,Are there patient support groups or other families affected by Braddock syndrome we could connect with?

Common questions about Braddock syndrome

What is Braddock syndrome?

Braddock syndrome is a very rare condition present from birth that affects multiple parts of the body at the same time. It is also sometimes referred to in medical literature by its features rather than a single widely-used synonym. The condition is characterized by a combination of physical differences that can include problems with the face and head shape, the heart, the limbs, and intellectual development. Because so few cases have been reported worldwide, doctors are still learning about the full range of symptoms and how the condition changes over time. People with Braddock syndrome may

How is Braddock syndrome inherited?

Braddock syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Braddock syndrome typically begin?

Typical onset of Braddock syndrome is neonatal. Age of onset can vary across affected individuals.