Living with Roifman syndrome
A rare genetic condition that affects growth, bones, the eyes, the immune system, and learning.
Understanding Roifman syndrome
It is linked to slow growth before and after birth, retina disease, a small head size, intellectual disability, and distinct facial features. It begins during pregnancy or in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Slow growth after birth
- Small head size (microcephaly)
- Retina damage (retinal dystrophy)
- Moderate intellectual disability
- Bone-end differences (epiphyseal dysplasia)
- Enlarged liver and spleen
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, bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in RNU4ATAC 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); Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); 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
It is caused by changes in the RNU4ATAC gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: rfmn; spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome; spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency; spondyloepiphyseal dysplasia, retinal dystrophy, immunodeficiency syndrome
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 Roifman syndrome.
Explore research for Roifman syndrome
Explore actively recruiting Roifman syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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