Overview
Chondroectodermal dysplasia with night blindness is an extremely rare genetic condition that combines features of Ellis-van Creveld syndrome (a type of skeletal dysplasia) with difficulty seeing in low light or darkness (night blindness). Chondroectodermal dysplasia affects the growth of bones and cartilage, leading to short stature, particularly with shortened limbs. It also affects the development of teeth, nails, and sometimes the heart. When combined with night blindness, this condition also involves problems with the retina — the light-sensing tissue at the back of the eye — making it hard to see in dim lighting conditions. Key features of this condition include short arms and legs, extra fingers or toes (polydactyly), abnormal teeth and nails, and sometimes heart defects present at birth. The night blindness component means that affected individuals have trouble with vision in low-light environments, which can worsen over time. Some patients may also experience other eye problems. There is currently no cure for this condition. Treatment focuses on managing individual symptoms. Orthopedic care can help with bone and joint problems, dental treatment addresses tooth abnormalities, and heart defects may require surgical correction. Eye specialists can help manage the night blindness and monitor for progressive vision changes. Early diagnosis and a coordinated team of specialists are important for the best possible outcomes.
Key symptoms:
Short stature with shortened limbsExtra fingers or toes at birthSmall or missing fingernails and toenailsAbnormal or missing teethDifficulty seeing in dim light or darknessNarrow chestHeart defects present at birthKnock kneesShort ribsFusion of bones in the wristUpper lip abnormalitiesProgressive vision problemsThin or sparse hair
Clinical phenotype terms (27)— 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 Chondroectodermal dysplasia with night blindness.
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Specialists
View all specialists →No specialists are currently listed for Chondroectodermal dysplasia with night blindness.
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 Chondroectodermal dysplasia with night blindness.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
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.Does my child have a heart defect, and if so, will it need surgery?,How severe is the night blindness, and is it expected to get worse over time?,What genetic testing should be done, and should other family members be tested?,What orthopedic treatments or surgeries might be needed as my child grows?,Are there any clinical trials or new treatments being studied for this condition?,What school accommodations should I request for my child?,How often should we see each specialist, and what monitoring is recommended?
Common questions about Chondroectodermal dysplasia with night blindness
What is Chondroectodermal dysplasia with night blindness?
Chondroectodermal dysplasia with night blindness is an extremely rare genetic condition that combines features of Ellis-van Creveld syndrome (a type of skeletal dysplasia) with difficulty seeing in low light or darkness (night blindness). Chondroectodermal dysplasia affects the growth of bones and cartilage, leading to short stature, particularly with shortened limbs. It also affects the development of teeth, nails, and sometimes the heart. When combined with night blindness, this condition also involves problems with the retina — the light-sensing tissue at the back of the eye — making it har
How is Chondroectodermal dysplasia with night blindness inherited?
Chondroectodermal dysplasia with night blindness follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Chondroectodermal dysplasia with night blindness typically begin?
Typical onset of Chondroectodermal dysplasia with night blindness is neonatal. Age of onset can vary across affected individuals.