Overview
Roifman syndrome is an extremely rare genetic disorder that affects multiple body systems. It is caused by mutations in the RNU4ATAC gene, which plays an important role in how cells process genetic instructions. The condition is characterized by a combination of skeletal abnormalities (particularly spondyloepiphyseal dysplasia, which affects the bones of the spine and the ends of long bones), growth problems leading to short stature, immune system deficiency (mainly low antibody levels), intellectual disability, and distinctive facial features. Children with Roifman syndrome often have a small head, a flat face, prominent eyes, and a small nose. The immune deficiency means that affected individuals are prone to frequent and sometimes severe infections, particularly of the ears, sinuses, and lungs. Retinal dystrophy, a condition affecting the light-sensing tissue at the back of the eye, can also occur and may lead to vision problems. Because the disease affects so many different parts of the body, treatment requires a team of specialists. There is currently no cure for Roifman syndrome. Treatment focuses on managing individual symptoms, such as immunoglobulin replacement therapy to boost the immune system, orthopedic care for bone and joint problems, and educational support for developmental delays. Early diagnosis and coordinated care can help improve quality of life for affected individuals.
Key symptoms:
Short stature and growth delayBone and joint abnormalities, especially in the spine and long bonesFrequent infections due to low antibody levelsIntellectual disability or learning difficultiesDistinctive facial features including prominent eyes and flat faceSmall head size (microcephaly)Vision problems due to retinal dystrophyDelayed motor developmentEczema or skin rashesHearing problemsDelayed speech and language developmentJoint stiffness or limited range of motionRecurrent ear infectionsRecurrent lung infections
Clinical phenotype terms (39)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Roifman syndrome.
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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 Roifman syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.How severe is my child's immune deficiency, and how often will they need immunoglobulin infusions?,What signs of infection should I watch for, and when should I seek emergency care?,What is the expected impact on my child's vision, and how often should eye exams be done?,Are there specific vaccines my child should avoid because of their immune deficiency?,What therapies and educational supports would benefit my child's development the most?,Should other family members be tested to see if they carry the gene mutation?,Are there any research studies or clinical trials that my child might be eligible for?
Common questions about Roifman syndrome
What is Roifman syndrome?
Roifman syndrome is an extremely rare genetic disorder that affects multiple body systems. It is caused by mutations in the RNU4ATAC gene, which plays an important role in how cells process genetic instructions. The condition is characterized by a combination of skeletal abnormalities (particularly spondyloepiphyseal dysplasia, which affects the bones of the spine and the ends of long bones), growth problems leading to short stature, immune system deficiency (mainly low antibody levels), intellectual disability, and distinctive facial features. Children with Roifman syndrome often have a small
How is Roifman syndrome inherited?
Roifman syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Roifman syndrome typically begin?
Typical onset of Roifman syndrome is infantile. Age of onset can vary across affected individuals.
Which specialists treat Roifman syndrome?
1 specialists and care centers treating Roifman syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.