Overview
SSR4-CDG, also known as congenital disorder of glycosylation type Iy or SSR4-congenital disorder of glycosylation, is an extremely rare genetic condition that affects how the body adds sugar chains (called glycans) to proteins. This process, known as glycosylation, is essential for many proteins to work properly throughout the body. SSR4-CDG is caused by changes (mutations) in the SSR4 gene, which provides instructions for making a part of a protein complex involved in moving newly made proteins into a cell structure called the endoplasmic reticulum, where glycosylation takes place. Children with SSR4-CDG typically show signs from birth or early infancy. Common features include intellectual disability, developmental delays, low muscle tone (hypotonia), distinctive facial features, and growth problems. Some children may also have seizures, feeding difficulties, and problems with other organ systems. Because glycosylation affects so many different proteins, the condition can impact multiple parts of the body. There is currently no cure for SSR4-CDG. Treatment focuses on managing individual symptoms and supporting development. This may include physical therapy, occupational therapy, speech therapy, seizure medications if needed, and nutritional support. A team of specialists typically works together to provide the best care for affected individuals. Research into congenital disorders of glycosylation is ongoing, and new understanding of these conditions continues to grow.
Also known as:
Key symptoms:
Intellectual disabilityDevelopmental delaysLow muscle tone (floppy baby)Distinctive facial featuresGrowth problems or short statureSeizuresFeeding difficulties in infancySpeech and language delaysMicrocephaly (small head size)Vision problemsAbnormal blood clottingLiver problemsFailure to thriveMovement difficulties
Clinical phenotype terms (28)— hover any for plain English
X-linked recessive
Carried on the X chromosome; typically affects males more than females
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for SSR4-CDG.
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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 SSR4-CDG.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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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.What specific type of CDG does my child have, and how was it confirmed?,What symptoms should I watch for that would need emergency care?,What therapies and early intervention services do you recommend starting now?,How often should blood tests and liver function be monitored?,Are there any clinical trials or research studies my child might be eligible for?,What is the expected developmental outlook for my child?,Should other family members be tested for carrier status?
Common questions about SSR4-CDG
What is SSR4-CDG?
SSR4-CDG, also known as congenital disorder of glycosylation type Iy or SSR4-congenital disorder of glycosylation, is an extremely rare genetic condition that affects how the body adds sugar chains (called glycans) to proteins. This process, known as glycosylation, is essential for many proteins to work properly throughout the body. SSR4-CDG is caused by changes (mutations) in the SSR4 gene, which provides instructions for making a part of a protein complex involved in moving newly made proteins into a cell structure called the endoplasmic reticulum, where glycosylation takes place. Children
How is SSR4-CDG inherited?
SSR4-CDG follows a x-linked recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does SSR4-CDG typically begin?
Typical onset of SSR4-CDG is neonatal. Age of onset can vary across affected individuals.
Which specialists treat SSR4-CDG?
16 specialists and care centers treating SSR4-CDG are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.