Ulbright-Hodes syndrome

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ORPHA:3404OMIM:266910Q87.8
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Overview

Ulbright-Hodes syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the bones and limbs. It is also sometimes referred to as mesomelic dysplasia, Ulbright type, or Ulbright-Hodes mesomelic dysplasia. This syndrome is characterized by abnormal shortening of the middle segments of the limbs (called mesomelia), meaning the forearms and lower legs are disproportionately short compared to the upper arms and thighs. Affected individuals may also have other skeletal abnormalities, including malformations of the hands and feet, and additional birth defects involving other organ systems. Because this condition is so rare, with only a handful of cases described in the medical literature, our understanding of the full range of symptoms and the best approaches to treatment remains limited. There is currently no cure for Ulbright-Hodes syndrome. Treatment is supportive and focuses on managing the specific symptoms each person experiences. This may include orthopedic interventions for limb and skeletal problems, physical therapy to improve mobility, and monitoring for any associated complications. A team of specialists is usually needed to provide comprehensive care. Early diagnosis and intervention can help improve quality of life, though the rarity of the condition means that management plans are often individualized based on each patient's needs.

Also known as:

Key symptoms:

Shortened forearms and lower legs (mesomelia)Abnormal bone development in the limbsMalformations of the hands or fingersMalformations of the feet or toesShort statureSkeletal abnormalitiesPossible kidney or urinary tract abnormalitiesPossible genital abnormalitiesJoint stiffness or limited range of motion

Clinical phenotype terms (44)— hover any for plain English
Abnormal penis morphologyHP:0000036Polycystic kidney dysplasiaHP:0000113Abnormal external genitalia morphologyHP:0000811Short sternumHP:0000879Thin ribsHP:0000883Single umbilical arteryHP:0001195
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 Ulbright-Hodes syndrome.

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No actively recruiting trials found for Ulbright-Hodes syndrome at this time.

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Search ClinicalTrials.gov ↗Join the Ulbright-Hodes syndrome community →

No specialists are currently listed for Ulbright-Hodes 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 Ulbright-Hodes syndrome.

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Community

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Latest news about Ulbright-Hodes 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 skeletal abnormalities does my child have, and how might they change over time?,Are any internal organs, such as the kidneys, affected?,What types of therapy or surgery might help improve my child's mobility?,Should we pursue genetic testing, and what might it tell us?,What is the recurrence risk if we plan to have more children?,Are there any specialists or centers with experience in this condition?,What adaptive equipment or school accommodations should we consider?

Common questions about Ulbright-Hodes syndrome

What is Ulbright-Hodes syndrome?

Ulbright-Hodes syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the bones and limbs. It is also sometimes referred to as mesomelic dysplasia, Ulbright type, or Ulbright-Hodes mesomelic dysplasia. This syndrome is characterized by abnormal shortening of the middle segments of the limbs (called mesomelia), meaning the forearms and lower legs are disproportionately short compared to the upper arms and thighs. Affected individuals may also have other skeletal abnormalities, including malformations of the hands and feet, and additional birth defects i

How is Ulbright-Hodes syndrome inherited?

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

At what age does Ulbright-Hodes syndrome typically begin?

Typical onset of Ulbright-Hodes syndrome is neonatal. Age of onset can vary across affected individuals.