Overview
Congenital disorder of glycosylation with deafness as a major feature (Orphanet code 371212) is an extremely rare inherited metabolic condition that belongs to a large family of diseases called congenital disorders of glycosylation (CDG). In these conditions, the body has trouble attaching sugar molecules (glycans) to proteins and fats, a process called glycosylation. This sugar-coating process is essential for many proteins to work properly throughout the body. When glycosylation does not work correctly, it can affect many organs and systems. In this particular subtype, hearing loss (deafness) is one of the most prominent features. Patients may experience sensorineural hearing loss, which means the inner ear or the nerve pathways from the ear to the brain are affected. Depending on the specific genetic cause, other symptoms may include developmental delay, intellectual disability, neurological problems, growth difficulties, and problems with other organs. The severity can vary widely from person to person. There is currently no cure for this group of conditions. Treatment is mainly supportive and focuses on managing individual symptoms. This may include hearing aids or cochlear implants for hearing loss, speech therapy, physical therapy, and developmental support. Some specific CDG subtypes may respond to targeted sugar supplementation therapies, but this depends on the exact genetic defect involved. Early diagnosis and intervention, especially for hearing loss, can significantly improve quality of life and developmental outcomes.
Also known as:
Key symptoms:
Hearing loss or deafnessDevelopmental delayIntellectual disabilityPoor muscle tone (floppy muscles)Difficulty with balance and coordinationFailure to thrive or poor growthSeizuresSpeech and language delaysAbnormal eye movementsLiver problemsFeeding difficulties in infancySkeletal abnormalitiesAbnormal fat distribution
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Congenital disorder of glycosylation with deafness as a major feature.
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Specialists
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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
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Community
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Caregiver Resources
NORD Caregiver Resources
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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 congenital disorder of glycosylation does my child have, and which gene is affected?,How severe is the hearing loss, and what are the best options for hearing support?,Are there any targeted treatments or sugar supplementation therapies that might help?,What other organs should be monitored, and how often should we have check-ups?,What developmental therapies should we start, and how soon?,Are there any clinical trials or research studies we could participate in?,What does this diagnosis mean for future pregnancies and other family members?
Common questions about Congenital disorder of glycosylation with deafness as a major feature
What is Congenital disorder of glycosylation with deafness as a major feature?
Congenital disorder of glycosylation with deafness as a major feature (Orphanet code 371212) is an extremely rare inherited metabolic condition that belongs to a large family of diseases called congenital disorders of glycosylation (CDG). In these conditions, the body has trouble attaching sugar molecules (glycans) to proteins and fats, a process called glycosylation. This sugar-coating process is essential for many proteins to work properly throughout the body. When glycosylation does not work correctly, it can affect many organs and systems. In this particular subtype, hearing loss (deafnes
How is Congenital disorder of glycosylation with deafness as a major feature inherited?
Congenital disorder of glycosylation with deafness as a major feature follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.