Living with Neutropenia-monocytopenia-deafness syndrome
A genetic condition with low levels of certain white blood cells and hearing loss present from birth.
Understanding Neutropenia-monocytopenia-deafness syndrome
People with this condition have low numbers of two kinds of white blood cells, neutrophils and monocytes, along with bone marrow that makes fewer of certain blood cells (myeloid marrow hypoplasia). They also have hearing loss from birth. GARD lists onset as newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hearing loss from the inner ear (sensorineural hearing impairment)
- Differences in neutrophils, a type of white blood cell
- Differences in how the immune system works
- Differences in the shape of macrophages (immune cells)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Neutropenia Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It doesn't list a specific gene or how it is inherited.
Also known as: neutropenia-monocytopenia-hearing loss syndrome; neutropenia, monocytopenia, deafness syndrome
Patient organizations
- National Neutropenia NetworkNeutropenia-monocytopenia-deafness syndrome · United States
- Immune Deficiency FoundationPrimary immunodeficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Neutropenia-monocytopenia-deafness syndrome.
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