Ankylosing vertebral hyperostosis with tylosis

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ORPHA:2206OMIM:106400M48.1
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Overview

Ankylosing vertebral hyperostosis with tylosis, also known as Forestier-Rotés-Querol syndrome or diffuse idiopathic skeletal hyperostosis (DISH) with tylosis, is a rare condition that combines two distinct features: abnormal bone growth along the spine and a skin condition called tylosis (thickening of the skin on the palms of the hands and soles of the feet). The bone overgrowth, called hyperostosis, causes the ligaments and tendons attached to the spine to harden and turn into bone over time. This process can fuse sections of the spine together, leading to stiffness and reduced movement. The spinal changes typically cause back pain, stiffness, and difficulty bending or turning. In some people, the bone overgrowth can press on nerves or the spinal cord, causing pain, numbness, or weakness in the arms or legs. The tylosis causes the skin on the hands and feet to become unusually thick and tough, which can be uncomfortable and affect daily activities. Treatment focuses on managing symptoms rather than curing the disease. Pain relief, physical therapy, and skin care are the main approaches. Because this condition is so rare, treatment plans are largely based on managing each person's individual symptoms.

Key symptoms:

Back pain and stiffness, especially in the morningReduced ability to bend or twist the spineThickened, tough skin on the palms and soles (tylosis)Difficulty swallowing if bone growth affects the neck areaNumbness or tingling in the arms or legsWeakness in the arms or legsNeck pain and stiffnessTenderness where tendons attach to bonesGradual loss of spinal flexibility over timeDiscomfort or pain in the hands and feet due to skin thickening

Clinical phenotype terms (5)— hover any for plain English
Abnormal pelvis bone morphologyHP:0040163
Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Ankylosing vertebral hyperostosis with tylosis.

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No specialists are currently listed for Ankylosing vertebral hyperostosis with tylosis.

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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

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Questions for your doctor

Bring these to your next appointment

  • Q1.What imaging or genetic tests do I need to confirm this diagnosis?,How quickly is my spine likely to stiffen, and what can I do to slow that process?,What type of physical therapy is best for my situation?,Are there any activities or movements I should avoid to protect my spine?,Should my family members be tested for this condition?,What warning signs should prompt me to seek emergency care?,Are there any clinical trials or research studies I could participate in?

Common questions about Ankylosing vertebral hyperostosis with tylosis

What is Ankylosing vertebral hyperostosis with tylosis?

Ankylosing vertebral hyperostosis with tylosis, also known as Forestier-Rotés-Querol syndrome or diffuse idiopathic skeletal hyperostosis (DISH) with tylosis, is a rare condition that combines two distinct features: abnormal bone growth along the spine and a skin condition called tylosis (thickening of the skin on the palms of the hands and soles of the feet). The bone overgrowth, called hyperostosis, causes the ligaments and tendons attached to the spine to harden and turn into bone over time. This process can fuse sections of the spine together, leading to stiffness and reduced movement. Th

How is Ankylosing vertebral hyperostosis with tylosis inherited?

Ankylosing vertebral hyperostosis with tylosis follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

At what age does Ankylosing vertebral hyperostosis with tylosis typically begin?

Typical onset of Ankylosing vertebral hyperostosis with tylosis is adult. Age of onset can vary across affected individuals.