Overview
Occipital horn syndrome (OHS), also known as X-linked cutis laxa or Ehlers-Danlos syndrome type IX (historical name), is a rare genetic disorder caused by problems with how the body uses copper. It is a milder form of Menkes disease, which is a more severe copper metabolism disorder. The condition gets its name from distinctive bony growths (called "occipital horns") that form at the back of the skull where neck muscles attach. These horn-like projections can often be felt as bumps at the base of the skull. OHS affects connective tissue throughout the body because copper is essential for enzymes that help build strong connective tissue, including collagen and elastin. As a result, people with OHS often have loose, stretchy skin, lax joints, hernias, bladder problems called diverticula, and skeletal abnormalities. Blood vessels may also be affected, and some individuals experience chronic diarrhea. Intellectual development is usually normal or only mildly affected, which distinguishes OHS from the more severe Menkes disease. There is no cure for occipital horn syndrome. Treatment focuses on managing symptoms and may include copper histidine injections to help improve copper levels in the body. Surgical repair may be needed for hernias or bladder complications. Physical therapy can help with joint and muscle problems. Regular monitoring by a team of specialists is important to manage the various body systems that can be affected.
Key symptoms:
Bony bumps at the back of the skull (occipital horns)Loose, stretchy, and sagging skinOverly flexible jointsHernias (inguinal or umbilical)Bladder pouches (diverticula) causing urinary problemsChronic diarrheaSkeletal abnormalities including curved bonesShort stature or slow growthMild muscle weaknessEasy bruisingVaricose veins or blood vessel problemsCoarse or unusual hair textureMild intellectual difficulties in some casesFlat feetOsteoporosis or weak bones
Clinical phenotype terms (50)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Occipital horn syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Occipital horn syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.Would copper histidine injections be beneficial for my child, and when should they be started?,How often should we monitor copper and ceruloplasmin levels in the blood?,What imaging or tests should be done regularly to check for bladder diverticula and skeletal changes?,Are there specific physical activities my child should avoid to protect their joints?,What signs of complications should prompt an emergency room visit?,Is genetic counseling recommended for other family members, especially female relatives who might be carriers?,Are there any clinical trials or new treatments being studied for occipital horn syndrome?
Common questions about Occipital horn syndrome
What is Occipital horn syndrome?
Occipital horn syndrome (OHS), also known as X-linked cutis laxa or Ehlers-Danlos syndrome type IX (historical name), is a rare genetic disorder caused by problems with how the body uses copper. It is a milder form of Menkes disease, which is a more severe copper metabolism disorder. The condition gets its name from distinctive bony growths (called "occipital horns") that form at the back of the skull where neck muscles attach. These horn-like projections can often be felt as bumps at the base of the skull. OHS affects connective tissue throughout the body because copper is essential for enzy
How is Occipital horn syndrome inherited?
Occipital horn syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Occipital horn syndrome typically begin?
Typical onset of Occipital horn syndrome is childhood. Age of onset can vary across affected individuals.
Which specialists treat Occipital horn syndrome?
1 specialists and care centers treating Occipital horn syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.