OBSOLETE: Radial hemimelia, bilateral

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ORPHA:295071
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1Active trials8Treatment centers

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Overview

Radial hemimelia, bilateral, refers to a condition where the radius bone (one of the two bones in the forearm) is partially or completely absent on both sides of the body. The term 'hemimelia' means that part of a limb is missing or underdeveloped. When it is 'bilateral,' it means both arms are affected. This condition is present at birth and can range from a slightly shorter radius to a completely missing radius bone. Children born with this condition typically have shortened forearms, and the wrists and hands may curve inward toward the thumb side. The thumb may also be underdeveloped or absent. It is important to note that this specific Orphanet entry is marked as 'OBSOLETE,' meaning it has been retired or merged into a broader or updated classification. Bilateral radial hemimelia is now more commonly discussed under the umbrella of 'radial ray deficiency' or 'radial longitudinal deficiency.' This condition can occur as an isolated finding or as part of broader genetic syndromes such as Holt-Oram syndrome, Fanconi anemia, thrombocytopenia-absent radius (TAR) syndrome, or VACTERL association. Treatment typically involves a combination of splinting, physical therapy, and surgical interventions to improve hand and arm function. Early evaluation by a team of specialists is essential to determine the underlying cause and plan appropriate care.

Also known as:

Key symptoms:

Shortened forearms on both sidesAbsent or underdeveloped radius bone in both armsWrists that curve inward toward the thumb sideAbsent or small thumbsReduced grip strengthLimited wrist and forearm movementBowing of the remaining forearm bone (ulna)Difficulty with fine motor tasks like grasping objectsStiff or limited elbow movementUnequal arm lengths compared to the body

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗NORD ↗

FDA & Trial Timeline

1 event
Feb 2016Muscle Connective Tissue in Limb Development and Disease

King's College London

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Radial hemimelia, bilateral.

1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

1 recruitingView all trials with filters →
Other1 trial
Muscle Connective Tissue in Limb Development and Disease
Actively Recruiting
PI: Malcolm Logan, PhD (King's College London) · Sites: Oxford, Oxfordshire; London +3 more

No specialists are currently listed for OBSOLETE: Radial hemimelia, bilateral.

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 OBSOLETE: Radial hemimelia, bilateral.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's radial hemimelia part of a broader genetic syndrome, and what testing is needed?,What surgical options are available, and when is the best time to operate?,How can occupational therapy help improve my child's hand function?,Are there any associated health problems we should screen for, such as heart or blood disorders?,What adaptive tools or devices can help my child with daily activities?,Should other family members be tested for genetic conditions?,What is the long-term outlook for my child's arm function and independence?

Common questions about OBSOLETE: Radial hemimelia, bilateral

What is OBSOLETE: Radial hemimelia, bilateral?

Radial hemimelia, bilateral, refers to a condition where the radius bone (one of the two bones in the forearm) is partially or completely absent on both sides of the body. The term 'hemimelia' means that part of a limb is missing or underdeveloped. When it is 'bilateral,' it means both arms are affected. This condition is present at birth and can range from a slightly shorter radius to a completely missing radius bone. Children born with this condition typically have shortened forearms, and the wrists and hands may curve inward toward the thumb side. The thumb may also be underdeveloped or abs

At what age does OBSOLETE: Radial hemimelia, bilateral typically begin?

Typical onset of OBSOLETE: Radial hemimelia, bilateral is neonatal. Age of onset can vary across affected individuals.

Are there clinical trials for OBSOLETE: Radial hemimelia, bilateral?

Yes — 1 recruiting clinical trial is currently listed for OBSOLETE: Radial hemimelia, bilateral on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.