Overview
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems from birth or early infancy. The name describes its main features: babies are born with cloudy lenses in their eyes (congenital cataracts), experience progressively worsening low muscle tone (muscular hypotonia), develop hearing loss, and show delays in reaching developmental milestones such as sitting, walking, and speaking. This condition falls under the broader category of mitochondrial or neuromuscular disorders, as reflected by its ICD-10 classification under mitochondrial myopathy (G71.3), suggesting that problems with how cells produce energy may play a role in the disease. Because this syndrome affects the eyes, muscles, ears, and brain development simultaneously, children with this condition typically need care from multiple specialists. The cataracts can impair vision from a very early age if not treated surgically. The progressive muscle weakness can affect movement, feeding, and breathing over time. Hearing loss may range from mild to severe and can further complicate speech and language development. There is currently no cure for this syndrome. Treatment focuses on managing each symptom individually — cataract surgery to restore vision, hearing aids or cochlear implants for hearing loss, physical therapy for muscle weakness, and early intervention programs to support developmental progress. Because so few cases have been described in the medical literature, the full spectrum of the disease and its long-term outlook are still being understood.
Also known as:
Key symptoms:
Cloudy lenses in the eyes present at birth (cataracts)Low muscle tone that gets worse over timeHearing lossDelayed development of motor skills like sitting and walkingDelayed speech and language developmentDifficulty feeding in infancyMuscle weaknessPoor balance and coordinationIntellectual disability or learning difficultiesReduced visionFloppy or limp body in infancyFatigue and low energy levels
Clinical phenotype terms (13)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventATryn: FDA approved
Prevention of peri-operative and peri-partum thromboembolic events, in hereditary antithrombin deficient patients.
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableATryn
Prevention of peri-operative and peri-partum thromboembolic events, in hereditary antithrombin deficient patients.
Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Congenital cataract-progressive muscular hypotonia-hearing loss-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-progressive muscular hypotonia-hearing loss-developmental delay syndrome.
Community
No community posts yet. Be the first to share your experience with Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome.
Start the conversation →Latest news about Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
No recent news articles for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome.
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 genetic testing has been done, and do we know the exact genetic cause of my child's condition?,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?,How quickly might the muscle weakness progress, and what can we do to slow it down?,What therapies and early intervention services should we start right away?,Are there any clinical trials or research studies that my child might be eligible for?,Should other family members be tested, and what is the chance of this happening in future pregnancies?
Common questions about Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
What is Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome?
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is an extremely rare genetic condition that affects multiple body systems from birth or early infancy. The name describes its main features: babies are born with cloudy lenses in their eyes (congenital cataracts), experience progressively worsening low muscle tone (muscular hypotonia), develop hearing loss, and show delays in reaching developmental milestones such as sitting, walking, and speaking. This condition falls under the broader category of mitochondrial or neuromuscular disorders, as reflected
At what age does Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome typically begin?
Typical onset of Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome?
1 patient support program are currently tracked on UniteRare for Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.