Overview
Congenital neutropenia-myelofibrosis-nephromegaly syndrome is an extremely rare inherited condition that affects the blood, bone marrow, and kidneys from birth. The name describes its three main features: congenital neutropenia (a very low level of neutrophils, which are white blood cells that fight infections), myelofibrosis (scarring of the bone marrow where blood cells are made), and nephromegaly (abnormally enlarged kidneys). Because neutrophils are a key part of the immune system, affected individuals are highly vulnerable to serious and recurrent bacterial infections starting in infancy. The bone marrow scarring can interfere with normal blood cell production, potentially leading to anemia and other blood count abnormalities. The enlarged kidneys may or may not cause kidney function problems, but they are a distinctive feature that helps doctors recognize this syndrome. This condition is so rare that only a handful of cases have been described in the medical literature. Treatment is mainly supportive and focuses on preventing and treating infections, often using granulocyte colony-stimulating factor (G-CSF) to boost neutrophil counts. Bone marrow transplant may be considered in severe cases. Because of the rarity of this syndrome, management is typically guided by specialists experienced in severe congenital neutropenia and related bone marrow disorders.
Also known as:
Key symptoms:
Very low white blood cell count (neutropenia)Frequent and severe bacterial infectionsEnlarged kidneysScarring of the bone marrow (myelofibrosis)Fever and infections starting in early infancyAnemia (low red blood cells)Fatigue and poor energyFailure to thrive or poor growth in infancySkin infections or abscessesMouth sores or gum diseasePossible low platelet counts
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital neutropenia-myelofibrosis-nephromegaly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital neutropenia-myelofibrosis-nephromegaly 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 Congenital neutropenia-myelofibrosis-nephromegaly syndrome.
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Caregiver Resources
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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 is my child's current neutrophil count and what does it mean for infection risk?,Is G-CSF therapy recommended, and what are the potential side effects?,Should we consider bone marrow transplantation, and what are the risks and benefits?,How often should blood counts and kidney function be monitored?,What signs of infection should prompt an emergency visit?,Are there any genetic tests that can help confirm the diagnosis or guide treatment?,Are there clinical trials or research studies we should know about?
Common questions about Congenital neutropenia-myelofibrosis-nephromegaly syndrome
What is Congenital neutropenia-myelofibrosis-nephromegaly syndrome?
Congenital neutropenia-myelofibrosis-nephromegaly syndrome is an extremely rare inherited condition that affects the blood, bone marrow, and kidneys from birth. The name describes its three main features: congenital neutropenia (a very low level of neutrophils, which are white blood cells that fight infections), myelofibrosis (scarring of the bone marrow where blood cells are made), and nephromegaly (abnormally enlarged kidneys). Because neutrophils are a key part of the immune system, affected individuals are highly vulnerable to serious and recurrent bacterial infections starting in infancy.
How is Congenital neutropenia-myelofibrosis-nephromegaly syndrome inherited?
Congenital neutropenia-myelofibrosis-nephromegaly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital neutropenia-myelofibrosis-nephromegaly syndrome typically begin?
Typical onset of Congenital neutropenia-myelofibrosis-nephromegaly syndrome is neonatal. Age of onset can vary across affected individuals.