Gorham-Stout disease

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ORPHA:73OMIM:123880M89.5
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8Treatment centers

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UniteRare data is sourced from FDA.gov, ClinicalTrials.gov, Orphanet, OMIM, and NORD.
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Overview

Gorham-Stout disease (GSD) is a very rare bone disorder where one or more bones slowly disappear over time. It is also known as 'vanishing bone disease,' 'phantom bone disease,' or 'massive osteolysis.' In this condition, abnormal blood vessels and lymphatic vessels (tiny channels that carry fluid through the body) grow into bone tissue and gradually replace it. The bone essentially dissolves away, which can cause pain, weakness, and deformity in the affected area. Gorham-Stout disease can affect almost any bone in the body, but it most commonly involves the skull, spine, shoulder, ribs, and pelvis. As the bone breaks down, nearby bones can also become involved. One of the most serious complications happens when the disease affects the spine or chest area, which can put pressure on the spinal cord or cause fluid to build up around the lungs — a condition called chylothorax. There is currently no cure for Gorham-Stout disease. Treatment focuses on slowing the bone loss, managing pain, and preventing complications. Options include radiation therapy, medications such as bisphosphonates (which help protect bone), and drugs that target abnormal blood vessel growth. Surgery may be needed to stabilize bones or repair damage. Because this disease is so rare and unpredictable, care is highly individualized and usually managed by a team of specialists.

Also known as:

Key symptoms:

Bone pain that gets worse over timeSwelling or tenderness near affected bonesBones that break easily or without much forceGradual loss of bone visible on X-rayWeakness or limited movement in the affected areaFluid buildup around the lungs (chylothorax)Difficulty breathing if the chest or spine is affectedSpinal cord problems such as numbness, tingling, or weakness in the limbsDeformity or collapse of affected bonesHeadaches or neurological symptoms if the skull is involvedDifficulty swallowing if bones near the throat are affected

Clinical phenotype terms (36)— hover any for plain English
Elevated alkaline phosphatase of bone originHP:0010639Patchy reduction of bone mineral densityHP:0010657Abnormal calvaria morphologyHP:0002683Abnormality of the cervical spineHP:0003319Impaired masticationHP:0005216Cortical irregularityHP:0005731Osteolysis involving bones of the lower limbsHP:0009139Abnormality of the temporomandibular jointHP:0010754Abnormality of the internal auditory canalHP:0011384Abnormal facial skeleton morphologyHP:0011821Abnormal bone ossificationHP:0011849Abnormal occipital bone morphologyHP:0012294RhinorrheaHP:0031417Osteolysis involving bones of the upper limbsHP:0045039
Inheritance

Sporadic

Usually appears on its own, not inherited from a parent

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Gorham-Stout disease.

View clinical trials →

No actively recruiting trials found for Gorham-Stout disease at this time.

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

Search ClinicalTrials.gov ↗Join the Gorham-Stout disease community →

Specialists

19 foundView all specialists →
TP
Timothy LeCras, PhD
Specialist
PI on 1 active trial
MM
Melisa Ruiz-Gutierrez, M.D.
BOSTON, MA
Specialist
PI on 1 active trial
YP
Yoav Dori, MD, PhD
PHILADELPHIA, PA
Specialist
PI on 1 active trial
ZH
Zohreh Habibi
Specialist
1 Gorham-Stout disease publication
MO
Mohammad Amin Dabbagh Ohadi
Specialist
1 Gorham-Stout disease publication
EM
Esmaeil Mohammadi
Specialist
1 Gorham-Stout disease publication
FN
Farideh Nejat
Specialist
1 Gorham-Stout disease publication
XZ
Xuepeng Zhang
Specialist
1 Gorham-Stout disease publication
CY
Congxia Yang
Specialist
1 Gorham-Stout disease publication
MR
Michela Rossi
Specialist
1 Gorham-Stout disease publication
ZZ
Zilong Zhou
Specialist
1 Gorham-Stout disease publication
ZZ
Zixin Zhang
Specialist
1 Gorham-Stout disease publication
XG
Xue Gong
GREENSBORO, NC
Specialist
1 Gorham-Stout disease publication
YZ
Yujia Zhang
Specialist
1 Gorham-Stout disease publication
OP
Olivia Pagliarosi
Specialist
1 Gorham-Stout disease publication
JP
Jessica Pepe
Specialist
1 Gorham-Stout disease publication
AF
Andrea Del Fattore
Specialist
1 Gorham-Stout disease publication
SM
Seyed Farzad Maroufi
Specialist
1 Gorham-Stout disease publication
SM
Sarah E Sheppard, M.D.
Specialist
PI on 1 active trial

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 Gorham-Stout disease.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Gorham-Stout disease

No recent news articles for Gorham-Stout disease.

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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.Which bones are currently affected, and how quickly does the disease appear to be progressing in my case?,What treatment options do you recommend for me, and what is the goal of each treatment?,Should I be referred to a center with specific experience in Gorham-Stout disease?,What warning signs should prompt me to go to the emergency room immediately?,Are there any clinical trials or experimental treatments I might be eligible for?,How often do I need imaging to monitor the disease, and what type of imaging is best?,What activity restrictions should I follow to reduce my risk of fractures or other complications?

Common questions about Gorham-Stout disease

What is Gorham-Stout disease?

Gorham-Stout disease (GSD) is a very rare bone disorder where one or more bones slowly disappear over time. It is also known as 'vanishing bone disease,' 'phantom bone disease,' or 'massive osteolysis.' In this condition, abnormal blood vessels and lymphatic vessels (tiny channels that carry fluid through the body) grow into bone tissue and gradually replace it. The bone essentially dissolves away, which can cause pain, weakness, and deformity in the affected area. Gorham-Stout disease can affect almost any bone in the body, but it most commonly involves the skull, spine, shoulder, ribs, and

How is Gorham-Stout disease inherited?

Gorham-Stout disease follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Which specialists treat Gorham-Stout disease?

19 specialists and care centers treating Gorham-Stout disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.