Overview
Congenital cataract-hearing loss-severe developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its three main features: cataracts present at birth (clouding of the lenses in the eyes), hearing loss, and significant delays in reaching developmental milestones such as sitting, walking, and speaking. This condition falls under a group of metabolic disorders, as indicated by its classification under metabolic diseases (ICD-10 E88.8), suggesting that an underlying problem with the body's chemical processes may be responsible for the combination of symptoms. Children born with this syndrome typically show signs very early in life. The cataracts can cause significant vision problems if not treated promptly with surgery. Hearing loss may range from moderate to severe and can further complicate a child's ability to learn and communicate. The severe developmental delay means that affected children often need lifelong support for daily activities and learning. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually. This may include cataract surgery to improve vision, hearing aids or cochlear implants for hearing loss, and early intervention programs including physical therapy, occupational therapy, and speech therapy to support development as much as possible. Because this condition is so rare, research is limited, and families often benefit from working with a team of specialists who can coordinate care across multiple areas.
Also known as:
Key symptoms:
Cloudy lenses in the eyes present at birth (cataracts)Hearing lossSevere delays in learning to sit, walk, and talkIntellectual disabilityPoor muscle toneDifficulty feeding in infancyDelayed speech and language developmentPoor vision or blindness if cataracts are untreatedDifficulty with fine motor skillsLimited ability to perform daily tasks independently
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital cataract-hearing loss-severe developmental delay syndrome.
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Specialists
View all specialists →No specialists are currently listed for Congenital cataract-hearing loss-severe developmental delay syndrome.
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 cataract-hearing loss-severe developmental delay syndrome.
Community
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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.What is the specific genetic cause of my child's condition, and should we pursue further genetic testing?,When should cataract surgery be performed, and what are the risks and expected outcomes?,What type of hearing loss does my child have, and what are the best options for hearing support?,What early intervention therapies should we start, and how often should they occur?,Are there any underlying metabolic problems that could be treated?,What should we watch for in terms of complications or emergencies?,Is there a risk of this condition occurring in future pregnancies, and should we consider genetic counseling?
Common questions about Congenital cataract-hearing loss-severe developmental delay syndrome
What is Congenital cataract-hearing loss-severe developmental delay syndrome?
Congenital cataract-hearing loss-severe developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its three main features: cataracts present at birth (clouding of the lenses in the eyes), hearing loss, and significant delays in reaching developmental milestones such as sitting, walking, and speaking. This condition falls under a group of metabolic disorders, as indicated by its classification under metabolic diseases (ICD-10 E88.8), suggesting that an underlying problem with the body's chemical processes may be respons
How is Congenital cataract-hearing loss-severe developmental delay syndrome inherited?
Congenital cataract-hearing loss-severe developmental delay syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital cataract-hearing loss-severe developmental delay syndrome typically begin?
Typical onset of Congenital cataract-hearing loss-severe developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.