Congenital pseudoarthrosis of the clavicle

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ORPHA:66630OMIM:118980Q74.0
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4Specialists8Treatment centers

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Overview

Congenital pseudoarthrosis of the clavicle (CPC) is a rare condition that a baby is born with, where the collarbone (clavicle) fails to form properly. Instead of being one solid bone, there is a gap or false joint — called a pseudoarthrosis — usually in the middle of the collarbone. This happens during development before birth and is almost always seen on the right side of the body. In rare cases, it can affect both sides, which is often linked to a condition called situs inversus, where the heart and other organs are mirrored from their usual positions. Most children with CPC have a visible or felt lump on the collarbone, but they are usually not in much pain during early childhood. Over time, some children may notice discomfort, limited shoulder movement, or cosmetic concerns as they grow. The bump may become more noticeable with age. Treatment depends on symptoms and age. Some children are monitored without surgery, while others benefit from an operation to repair the gap and stabilize the collarbone using bone grafts and fixation devices. Surgery is generally recommended before school age for the best results. With proper treatment, most children do very well and can lead full, active lives.

Also known as:

Key symptoms:

A visible or palpable lump or bump on the collarbone, almost always on the right sideA gap or abnormal movement felt in the middle of the collarboneMild shoulder discomfort or pain, especially with activity, which may worsen with ageLimited range of motion in the shoulder on the affected sideCosmetic concern due to the visible bump on the chest or shoulder areaWeakness or fatigue in the affected arm with prolonged useAsymmetry of the shoulders or chest wall appearance

Clinical phenotype terms (6)— hover any for plain English
Cervical ribsHP:0000891DextrocardiaHP:0001651Situs inversus totalisHP:0001696Congenital pseudoarthrosis of the clavicleHP:0006585
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 Congenital pseudoarthrosis of the clavicle.

View clinical trials →

No actively recruiting trials found for Congenital pseudoarthrosis of the clavicle at this time.

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Specialists

4 foundView all specialists →
AA
Abdullah A Alsaeed
Specialist
1 Congenital pseudoarthrosis of the clavicle publication
KR
Kevin T Root
COS COB, CT
Specialist
1 Congenital pseudoarthrosis of the clavicle publication
KH
Keegan M Hones
GAINESVILLE, FL
Specialist
1 Congenital pseudoarthrosis of the clavicle publication
KF
Kevin W Farmer
Specialist
1 Congenital pseudoarthrosis of the clavicle publication

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 Congenital pseudoarthrosis of the clavicle.

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Community

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Questions for your doctor

Bring these to your next appointment

  • Q1.Does my child need surgery now, or is it safe to wait and monitor?,What is the best age for surgery, and what happens if we delay it?,What type of surgery do you recommend, and what does recovery look like?,Will my child be able to play sports and do normal activities after treatment?,Are there any risks of nerve or blood vessel damage from the surgery?,How often will my child need follow-up appointments and X-rays?,Is there any chance this condition is related to another underlying syndrome we should test for?

Common questions about Congenital pseudoarthrosis of the clavicle

What is Congenital pseudoarthrosis of the clavicle?

Congenital pseudoarthrosis of the clavicle (CPC) is a rare condition that a baby is born with, where the collarbone (clavicle) fails to form properly. Instead of being one solid bone, there is a gap or false joint — called a pseudoarthrosis — usually in the middle of the collarbone. This happens during development before birth and is almost always seen on the right side of the body. In rare cases, it can affect both sides, which is often linked to a condition called situs inversus, where the heart and other organs are mirrored from their usual positions. Most children with CPC have a visible

How is Congenital pseudoarthrosis of the clavicle inherited?

Congenital pseudoarthrosis of the clavicle follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Congenital pseudoarthrosis of the clavicle typically begin?

Typical onset of Congenital pseudoarthrosis of the clavicle is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Congenital pseudoarthrosis of the clavicle?

4 specialists and care centers treating Congenital pseudoarthrosis of the clavicle are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.