Living with Nijmegen breakage syndrome-like disorder
A rare genetic condition with slow growth, a small head, developmental delay, and intellectual disability.
Understanding Nijmegen breakage syndrome-like disorder
It also involves developmental delay and distinct facial features, such as a sloping forehead and prominent eyes. Unlike Nijmegen breakage syndrome, GARD says it occurs without severe infections, immune deficiency, or cancer risk. Other reported features include mild muscle stiffness, mild ataxia that does not worsen, and farsightedness. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head (microcephaly)
- Short stature and slow growth
- Intellectual disability
- Trouble coordinating movement (ataxia)
- Muscle stiffness (spasticity)
- Farsightedness (hypermetropia)
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, cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in RAD50 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); 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
Changes in the RAD50 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: microcephaly and chromosomal instability without immunodeficiency; microcephaly and spontaneous chromosome instability without immunodeficiency; nbs-like (nijmegen breakage syndrome-like) disorder; nbs-like disorder; nbsld; rad50 deficiency
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 Nijmegen breakage syndrome-like disorder.
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