Living with Microcephaly, normal intelligence and immunodeficiency
A genetic condition (Nijmegen breakage syndrome) with a small head, short stature, repeated infections, and a higher chance of cancer.
Understanding Microcephaly, normal intelligence and immunodeficiency
People have short stature, a small head that is clear from birth in most, and certain facial features. The immune system does not work as it should, which can lead to repeated infections such as bronchitis, pneumonia, and sinusitis. There is an increased risk of cancer, most often non-Hodgkin lymphoma, and about half of people develop it, usually before age 15. Some people also have intellectual disability.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Smaller-than-average head size (microcephaly)
- Large ears and a beaked nose
- Low platelet count (thrombocytopenia)
- Autoimmune hemolytic anemia
- Chronic diarrhea
- Attention deficit disorder
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, brain and nervous system specialists, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in NBN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 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); Brain and nervous system specialists (neurologists); Cancer specialists (oncologists); 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 Immune Deficiency Foundation
- 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
This condition is caused by changes in the NBN gene. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: at v1; ataxia telangiectasia variant v1; ataxia-telangiectasia, variant 1; berlin breakage syndrome; immunodeficiency-microcephaly-chromosomal instability syndrome; immunodeficiency, microcephaly with normal intelligence
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Microcephaly, normal intelligence and immunodeficiency.
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