Overview
Congenital disorder of glycosylation with developmental anomaly (CDG with developmental anomaly) is a rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins and fats. These sugar chains are essential for many body functions, including proper development of organs and tissues before and after birth. When this process does not work correctly, it can lead to a wide range of developmental problems that may be visible at birth or become apparent during early childhood. This group of conditions can affect many different organ systems. Children born with this type of CDG may have structural birth defects (such as heart defects, skeletal abnormalities, or brain malformations), intellectual disability, delayed development, poor muscle tone, feeding difficulties, and failure to thrive. The severity varies widely depending on the specific genetic cause and which step in the glycosylation pathway is disrupted. There is currently no cure for most congenital disorders of glycosylation. Treatment is mainly supportive and focuses on managing individual symptoms. Some specific subtypes may respond to dietary supplements such as mannose or galactose, but this depends on the exact genetic diagnosis. A team of specialists is usually needed to provide comprehensive care. Early diagnosis through genetic testing is important to guide treatment and family planning.
Also known as:
Key symptoms:
Developmental delay or intellectual disabilityBirth defects affecting the heart, brain, or skeletonPoor muscle tone (floppy baby)Feeding difficulties in infancyFailure to thrive or poor weight gainSeizures or epilepsyAbnormal fat distribution or unusual skin appearanceCrossed eyes or other vision problemsLiver problems or elevated liver enzymesAbnormal blood clotting or easy bruisingSkeletal abnormalities such as curved spine or joint problemsSpeech and language delaysMovement problems or difficulty with coordinationHormonal imbalances
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital disorder of glycosylation with developmental anomaly.
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Specialists
View all specialists →No specialists are currently listed for Congenital disorder of glycosylation with developmental anomaly.
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
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What specific type of CDG does my child have, and what gene is affected?,Are there any targeted treatments or supplements that could help my child's specific subtype?,What developmental milestones should we watch for, and when should we be concerned?,What specialists should be part of our care team, and how often should we see them?,Are there any clinical trials or research studies my child might be eligible for?,What emergency situations should I watch for, and what should I do if they occur?,Should other family members be tested, and what does this mean for future pregnancies?
Common questions about Congenital disorder of glycosylation with developmental anomaly
What is Congenital disorder of glycosylation with developmental anomaly?
Congenital disorder of glycosylation with developmental anomaly (CDG with developmental anomaly) is a rare inherited metabolic condition that affects how the body adds sugar chains (called glycans) to proteins and fats. These sugar chains are essential for many body functions, including proper development of organs and tissues before and after birth. When this process does not work correctly, it can lead to a wide range of developmental problems that may be visible at birth or become apparent during early childhood. This group of conditions can affect many different organ systems. Children bo
At what age does Congenital disorder of glycosylation with developmental anomaly typically begin?
Typical onset of Congenital disorder of glycosylation with developmental anomaly is neonatal. Age of onset can vary across affected individuals.