Overview
Syndrome with congenital neutropenia as a major feature refers to a group of rare genetic conditions where a very low level of neutrophils — a type of white blood cell that fights bacterial infections — is present from birth and is part of a broader syndrome affecting multiple body systems. Neutrophils are essential for defending the body against bacteria and fungi, so when their numbers are severely reduced (a condition called neutropenia), patients become highly vulnerable to frequent and sometimes life-threatening infections. These infections often affect the skin, mouth, gums, lungs, and other organs. Because this is a group classification rather than a single disease, the additional features vary depending on the specific underlying syndrome. Some syndromes in this group may also involve problems with growth, bone marrow function, the skeleton, the heart, the brain, or the immune system beyond just neutrophils. Examples of conditions that fall under this umbrella include Shwachman-Diamond syndrome, Barth syndrome, WHIM syndrome, glycogen storage disease type Ib, Cohen syndrome, and others. Treatment typically centers on preventing and managing infections. Granulocyte colony-stimulating factor (G-CSF), sold under brand names like filgrastim (Neupogen) and pegfilgrastim, is commonly used to boost neutrophil production. In severe cases or when there is a risk of the bone marrow transforming into leukemia, a bone marrow (hematopoietic stem cell) transplant may be considered. Management also involves treating the other features of the specific syndrome involved. Early diagnosis and coordinated care from multiple specialists are essential for the best outcomes.
Also known as:
Key symptoms:
Frequent or severe bacterial infectionsMouth sores and gum diseaseSkin infections or abscessesFevers that keep coming backPneumonia or lung infectionsSlow growth or short statureLow white blood cell counts found on blood testsDelayed development or intellectual disability (in some syndromes)Bone or skeletal abnormalities (in some syndromes)Heart problems (in some syndromes)Pancreas problems or difficulty absorbing food (in some syndromes)Enlarged liver or spleenEasy bruising or bleedingFatigue and low energy
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
2 eventsZhejiang University — EARLY_PHASE1
Federal Research Institute of Pediatric Hematology, Oncology and Immunology — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Syndrome with congenital neutropenia as a major feature.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Syndrome with congenital neutropenia as a major feature.
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 Syndrome with congenital neutropenia as a major feature.
Community
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Caregiver Resources
NORD Caregiver Resources
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Mental Health Support
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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.Which specific syndrome does my child have, and what gene is involved?,What is the risk of developing leukemia, and how will you monitor for it?,Is G-CSF therapy recommended, and what dose and schedule should we follow?,Should we consider bone marrow transplantation now or in the future?,What infection prevention steps should we take at home and at school?,Are there other organs or body systems we need to monitor because of this syndrome?,Are there any clinical trials or new treatments being studied that might be appropriate?
Common questions about Syndrome with congenital neutropenia as a major feature
What is Syndrome with congenital neutropenia as a major feature?
Syndrome with congenital neutropenia as a major feature refers to a group of rare genetic conditions where a very low level of neutrophils — a type of white blood cell that fights bacterial infections — is present from birth and is part of a broader syndrome affecting multiple body systems. Neutrophils are essential for defending the body against bacteria and fungi, so when their numbers are severely reduced (a condition called neutropenia), patients become highly vulnerable to frequent and sometimes life-threatening infections. These infections often affect the skin, mouth, gums, lungs, and o
At what age does Syndrome with congenital neutropenia as a major feature typically begin?
Typical onset of Syndrome with congenital neutropenia as a major feature is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Syndrome with congenital neutropenia as a major feature?
Yes — 1 recruiting clinical trial is currently listed for Syndrome with congenital neutropenia as a major feature on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.