Overview
Lichtenstein syndrome is an extremely rare genetic disorder that primarily affects the bones and the immune system. It is also known as Lichtenstein-Knorr syndrome or familial symmetric lipomatosis with neutropenia. The condition is characterized by a combination of skeletal abnormalities, low levels of a type of white blood cell called neutrophils (a condition known as neutropenia), and sometimes other features such as short stature and recurrent infections. Because neutrophils are a key part of the body's defense against bacteria and fungi, people with Lichtenstein syndrome are more vulnerable to infections. The skeletal problems can include abnormal bone development and changes visible on X-rays. Some patients may also have other features such as unusual fat deposits or mild developmental differences. Due to the extreme rarity of this condition, there is very limited information about its full range of symptoms and long-term outcomes. Treatment is mainly supportive and focuses on managing infections related to low white blood cell counts, monitoring bone health, and addressing any other symptoms as they arise. There is currently no cure or specific targeted therapy for Lichtenstein syndrome. Patients benefit from a team of specialists who can coordinate care across the different body systems affected by this condition.
Key symptoms:
Low white blood cell count (neutropenia)Frequent or severe infectionsBone abnormalities visible on X-raysShort statureUnusual fat deposits under the skinDelayed growthSkeletal deformitiesFatigue and weakness from infections
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Lichtenstein syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lichtenstein 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 Lichtenstein 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.How severe is my child's neutropenia, and how often should blood counts be checked?,Should we consider treatment with G-CSF to boost white blood cell counts?,What signs of infection should prompt an emergency visit?,Are there any genetic tests that could help confirm the diagnosis or identify the cause?,What specialists should be part of our care team?,How will this condition affect my child's growth and development over time?,Are there any clinical studies or registries we should consider joining?
Common questions about Lichtenstein syndrome
What is Lichtenstein syndrome?
Lichtenstein syndrome is an extremely rare genetic disorder that primarily affects the bones and the immune system. It is also known as Lichtenstein-Knorr syndrome or familial symmetric lipomatosis with neutropenia. The condition is characterized by a combination of skeletal abnormalities, low levels of a type of white blood cell called neutrophils (a condition known as neutropenia), and sometimes other features such as short stature and recurrent infections. Because neutrophils are a key part of the body's defense against bacteria and fungi, people with Lichtenstein syndrome are more vulnera
How is Lichtenstein syndrome inherited?
Lichtenstein syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lichtenstein syndrome typically begin?
Typical onset of Lichtenstein syndrome is childhood. Age of onset can vary across affected individuals.