Overview
Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, also known as HED-ID-OL or OLEDAID syndrome, is a very rare inherited condition that affects multiple body systems at the same time. It is caused by changes (mutations) in the IKBKG gene, which is also called NEMO. This gene plays a key role in helping the immune system fight infections and in the normal development of skin, teeth, hair, and bones. People with this condition typically have reduced sweating (hypohidrosis), which makes it hard for the body to cool itself down. They also have a weakened immune system, making them much more likely to get serious bacterial, viral, and fungal infections. Bones can become abnormally dense and thick (osteopetrosis), which sounds like it would make them stronger, but actually makes them more fragile and prone to fractures. Swelling caused by fluid buildup in the limbs (lymphedema) is another common feature. Other signs include sparse hair, missing or unusually shaped teeth, and dry skin. Because so many body systems are involved, care requires a team of specialists. There is no cure at this time, but treatments focus on preventing infections, managing symptoms, and improving quality of life. In some cases, bone marrow transplant has been explored to address the immune deficiency.
Also known as:
Key symptoms:
Reduced or absent sweating, making it hard to stay coolFrequent and severe infections (bacterial, viral, fungal)Abnormally dense, thick bones (osteopetrosis) that are prone to fracturesSwelling in the arms or legs due to fluid buildup (lymphedema)Sparse or thin hairMissing, small, or cone-shaped teethDry or scaly skinDistinctive facial features such as a prominent forehead and sunken nose bridgeRecurrent lung infections or pneumoniaAnemia or low blood cell counts related to bone marrow problems
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome.
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 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome.
Community
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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.What specific mutation was found in the IKBKG gene, and what does it mean for my child's prognosis?,Should we consider bone marrow transplantation, and what are the risks and benefits for our situation?,What infections should we be most worried about, and what preventive treatments are recommended?,How do we manage overheating safely at home and at school?,What specialists should be part of our care team, and how often should we see each one?,Are there any clinical trials or research studies we should know about?,What should we do in an emergency, and when should we go straight to the hospital?
Common questions about Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
What is Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome?
Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome, also known as HED-ID-OL or OLEDAID syndrome, is a very rare inherited condition that affects multiple body systems at the same time. It is caused by changes (mutations) in the IKBKG gene, which is also called NEMO. This gene plays a key role in helping the immune system fight infections and in the normal development of skin, teeth, hair, and bones. People with this condition typically have reduced sweating (hypohidrosis), which makes it hard for the body to cool itself down. They also have a weakened immune
How is Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome inherited?
Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome typically begin?
Typical onset of Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome is neonatal. Age of onset can vary across affected individuals.