Overview
Congenital cataracts-facial dysmorphism-neuropathy syndrome, also known as CCFDN syndrome, is a rare inherited disorder that affects multiple parts of the body, including the eyes, facial features, and nervous system. It was first described in the Balkan Romani (Gypsy) population and is caused by a change in a specific gene that disrupts normal cell function throughout the body. The condition is present from birth. Babies born with CCFDN typically have clouding of the eye lenses (cataracts), which can seriously affect vision from a very early age. They also tend to have distinctive facial features, such as a small head size, closely spaced eyes, and a small chin. As children grow, they often develop problems with the nerves that control movement and sensation in the arms and legs, leading to muscle weakness, balance difficulties, and reduced feeling in the hands and feet. Other features can include short stature, delayed development, mild to moderate intellectual disability, and hormonal problems. There is currently no cure for CCFDN syndrome, and treatment focuses on managing individual symptoms. Early surgery for cataracts, physical therapy, and educational support can help improve quality of life. Because this condition affects so many body systems, a team of different specialists is usually needed to provide the best care.
Also known as:
Key symptoms:
Cloudy lenses in both eyes (cataracts) present at birthSmall head size (microcephaly)Distinctive facial features including closely spaced eyes and small chinMuscle weakness, especially in the legs and armsDifficulty walking and problems with balanceReduced sensation or numbness in the hands and feetShort statureMild to moderate intellectual disabilityDelayed development in motor and speech milestonesHormonal problems, including delayed or absent pubertyThin, wasted muscles over timeTremor or shaking of the handsAbnormal eye movements (nystagmus)
Clinical phenotype terms (32)— hover any for plain English
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 cataracts-facial dysmorphism-neuropathy syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Congenital cataracts-facial dysmorphism-neuropathy 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 cataracts-facial dysmorphism-neuropathy 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 cataracts-facial dysmorphism-neuropathy syndrome.
Community
No community posts yet. Be the first to share your experience with Congenital cataracts-facial dysmorphism-neuropathy syndrome.
Start the conversation →Latest news about Congenital cataracts-facial dysmorphism-neuropathy syndrome
No recent news articles for Congenital cataracts-facial dysmorphism-neuropathy 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.When should my child have cataract surgery, and what vision outcomes can we expect?,How quickly is the nerve damage likely to progress, and what signs should I watch for?,What therapies (physical, occupational, speech) does my child need right now, and how often?,Should other family members be tested to see if they are carriers of the CTDP1 mutation?,Will my child need hormone treatment, and when should we start monitoring for this?,What educational support and special services should we be requesting for my child?,Are there any clinical trials or research studies we could participate in?
Common questions about Congenital cataracts-facial dysmorphism-neuropathy syndrome
What is Congenital cataracts-facial dysmorphism-neuropathy syndrome?
Congenital cataracts-facial dysmorphism-neuropathy syndrome, also known as CCFDN syndrome, is a rare inherited disorder that affects multiple parts of the body, including the eyes, facial features, and nervous system. It was first described in the Balkan Romani (Gypsy) population and is caused by a change in a specific gene that disrupts normal cell function throughout the body. The condition is present from birth. Babies born with CCFDN typically have clouding of the eye lenses (cataracts), which can seriously affect vision from a very early age. They also tend to have distinctive facial fea
How is Congenital cataracts-facial dysmorphism-neuropathy syndrome inherited?
Congenital cataracts-facial dysmorphism-neuropathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital cataracts-facial dysmorphism-neuropathy syndrome typically begin?
Typical onset of Congenital cataracts-facial dysmorphism-neuropathy syndrome is neonatal. Age of onset can vary across affected individuals.