Overview
Congenital disorder of glycosylation with skin involvement (CDG with skin involvement) is a rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins and fats. This process, known as glycosylation, is essential for many body functions. When glycosylation does not work properly, it can affect multiple organs, but in this particular group of disorders, the skin is notably affected. Patients with this condition may experience a range of skin problems such as unusually loose or wrinkled skin (cutis laxa), dry or scaly skin (ichthyosis), skin that is easily damaged or slow to heal, and abnormal fat distribution under the skin. Beyond the skin, other body systems can also be involved, including the brain, liver, heart, and immune system. Symptoms can vary widely depending on the specific genetic cause. There is currently no cure for congenital disorders of glycosylation with skin involvement. Treatment focuses on managing symptoms and supporting affected organ systems. Some patients may benefit from specific dietary supplements such as mannose or galactose depending on the underlying defect, though these therapies are only effective in certain subtypes. A team of specialists is usually needed to provide comprehensive care. Early diagnosis through genetic testing is important to guide treatment and monitor for complications.
Also known as:
Key symptoms:
Loose or wrinkled skin (cutis laxa)Dry, scaly skin (ichthyosis)Skin that bruises or tears easilyAbnormal fat distribution under the skinDelayed growth and developmentIntellectual disability or learning difficultiesLow muscle tone (floppiness)Liver problemsSeizuresFeeding difficulties in infancySkeletal abnormalitiesImmune system problems with frequent infectionsAbnormal blood clottingVision problemsHeart defects
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Congenital disorder of glycosylation with skin involvement.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital disorder of glycosylation with skin involvement at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital disorder of glycosylation with skin involvement.
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 Congenital disorder of glycosylation with skin involvement.
Community
No community posts yet. Be the first to share your experience with Congenital disorder of glycosylation with skin involvement.
Start the conversation →Latest news about Congenital disorder of glycosylation with skin involvement
No recent news articles for Congenital disorder of glycosylation with skin involvement.
Follow this condition to be notified when news becomes available.
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.What specific subtype of CDG does my child have, and which gene is affected?,Are there any dietary supplements or specific treatments that could help this subtype?,What organs should be monitored regularly, and how often should we schedule check-ups?,Are there any activities or medications we should avoid because of this condition?,What should we do in case of a medical emergency related to this condition?,Are there clinical trials or research studies we could participate in?,What is the expected course of this condition, and how might it change over time?
Common questions about Congenital disorder of glycosylation with skin involvement
What is Congenital disorder of glycosylation with skin involvement?
Congenital disorder of glycosylation with skin involvement (CDG with skin involvement) is a rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins and fats. This process, known as glycosylation, is essential for many body functions. When glycosylation does not work properly, it can affect multiple organs, but in this particular group of disorders, the skin is notably affected. Patients with this condition may experience a range of skin problems such as unusually loose or wrinkled skin (cutis laxa), dry or scaly skin (ichthyosis), skin that