Isolated humero-radial synostosis

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ORPHA:3265OMIM:236400Q74.0
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8Treatment centers

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Overview

Isolated humero-radial synostosis is a very rare bone condition present from birth in which the humerus (the upper arm bone) and the radius (one of the two forearm bones) are fused together at the elbow joint. This fusion prevents normal bending and straightening of the elbow, significantly limiting arm movement. The condition is called "isolated" because it occurs on its own, without other major birth defects or syndromes. It may affect one or both elbows. Because the elbow joint cannot move freely, children with this condition have difficulty with everyday tasks such as feeding themselves, dressing, reaching, and carrying objects. The degree of limitation depends on the angle at which the bones are fused and whether one or both arms are involved. In some cases, the forearm may also be fixed in a rotated position, further limiting hand function. There is no cure that can fully restore normal elbow movement. Treatment focuses on improving function and quality of life. Surgical options, such as osteotomy (cutting and repositioning the bone), may be considered to place the arm in a more useful position. Physical and occupational therapy can help maximize the use of the affected arm. Adaptive devices may also be recommended to assist with daily activities. Early evaluation by an orthopedic specialist experienced in limb abnormalities is important for planning the best approach.

Also known as:

Key symptoms:

Inability to bend or straighten the elbowLimited range of motion in the armElbow joint stiffness from birthDifficulty rotating the forearmTrouble with self-feeding and dressingArm fixed in one positionReduced ability to reach overhead or behind the backPossible shortening of the affected armDifficulty carrying objectsVisible abnormality of the elbow area

Clinical phenotype terms (11)— hover any for plain English
MeningoceleHP:0002435Elbow ankylosisHP:0003070Aplasia/Hypoplasia affecting the eyeHP:0008056
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 ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Isolated humero-radial synostosis.

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No actively recruiting trials found for Isolated humero-radial synostosis at this time.

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No specialists are currently listed for Isolated humero-radial synostosis.

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 Isolated humero-radial synostosis.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Is my child's condition affecting one or both elbows, and how does that change the treatment plan?,At what angle is the elbow fused, and would surgery to reposition it improve function?,What is the best age for surgical intervention if it is recommended?,Should we pursue genetic testing to understand the cause and risk of recurrence in future children?,What occupational therapy services should we start, and how often?,Are there adaptive devices that could help my child with daily activities right now?,Could this condition be part of a broader syndrome, and should additional evaluations be done?

Common questions about Isolated humero-radial synostosis

What is Isolated humero-radial synostosis?

Isolated humero-radial synostosis is a very rare bone condition present from birth in which the humerus (the upper arm bone) and the radius (one of the two forearm bones) are fused together at the elbow joint. This fusion prevents normal bending and straightening of the elbow, significantly limiting arm movement. The condition is called "isolated" because it occurs on its own, without other major birth defects or syndromes. It may affect one or both elbows. Because the elbow joint cannot move freely, children with this condition have difficulty with everyday tasks such as feeding themselves,

At what age does Isolated humero-radial synostosis typically begin?

Typical onset of Isolated humero-radial synostosis is neonatal. Age of onset can vary across affected individuals.