Overview
Craniolenticulosutural dysplasia (CLSD) is a very rare genetic condition that affects the development of the skull, eyes, and other parts of the body. The name comes from three key features: 'cranio' refers to the skull, 'lenticular' refers to the lens of the eye, and 'sutural' refers to the sutures, which are the joints between the bones of the skull. In people with CLSD, these skull sutures stay open much longer than normal — a condition called late-closing sutures or sutural cataracts can also develop in the lens of the eye. The condition is caused by changes (mutations) in the SEC23A gene, which plays an important role in how cells package and transport proteins. When this gene does not work properly, it affects the normal development of bones and other tissues. Babies born with CLSD often have a large, soft head with wide-open skull joints, a small face, widely spaced eyes, and a small lower jaw. Some children also develop clouding of the eye lens (cataracts) and may have skeletal differences throughout the body. There is currently no cure for CLSD. Treatment focuses on managing individual symptoms, such as surgery for cataracts, monitoring brain development, and supportive therapies like physical and occupational therapy. Because this condition is so rare, care is usually coordinated by a team of specialists including clinical geneticists, ophthalmologists, and craniofacial surgeons.
Also known as:
Key symptoms:
Large head with wide-open skull joints (sutures) that close very lateSmall or underdeveloped faceWidely spaced eyesSmall lower jaw (micrognathia)Clouding of the eye lens (cataracts)Short statureSkeletal differences including thin bonesSoft spot on the head that stays open longer than usualDelayed bone developmentPossible intellectual or developmental delays in some cases
Clinical phenotype terms (34)— 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 Craniolenticulosutural dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Craniolenticulosutural dysplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Craniolenticulosutural dysplasia.
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 Craniolenticulosutural dysplasia.
Community
No community posts yet. Be the first to share your experience with Craniolenticulosutural dysplasia.
Start the conversation →Latest news about Craniolenticulosutural dysplasia
No recent news articles for Craniolenticulosutural dysplasia.
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 specific changes were found in my child's SEC23A gene, and what do they mean for their health?,How often should my child's skull growth and brain development be monitored?,Does my child need surgery for cataracts, and if so, when should it happen?,Are there any signs of increased brain pressure I should watch for at home?,What therapies — such as physical, occupational, or speech therapy — would benefit my child most right now?,What is the chance that future children could be affected, and is genetic counseling available for our family?,Are there any research studies or patient registries for CLSD that we could participate in?
Common questions about Craniolenticulosutural dysplasia
What is Craniolenticulosutural dysplasia?
Craniolenticulosutural dysplasia (CLSD) is a very rare genetic condition that affects the development of the skull, eyes, and other parts of the body. The name comes from three key features: 'cranio' refers to the skull, 'lenticular' refers to the lens of the eye, and 'sutural' refers to the sutures, which are the joints between the bones of the skull. In people with CLSD, these skull sutures stay open much longer than normal — a condition called late-closing sutures or sutural cataracts can also develop in the lens of the eye. The condition is caused by changes (mutations) in the SEC23A gene
How is Craniolenticulosutural dysplasia inherited?
Craniolenticulosutural dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Craniolenticulosutural dysplasia typically begin?
Typical onset of Craniolenticulosutural dysplasia is neonatal. Age of onset can vary across affected individuals.