Living with Craniolenticulosutural dysplasia
A rare genetic condition with large, late-closing soft spots on the skull, wide-set eyes, early cataracts, and mild bone differences.
Understanding Craniolenticulosutural dysplasia
It is marked by large soft spots on the skull (fontanels) that close late, wide-set eyes (hypertelorism), cataracts that start early, and mild skeletal differences throughout the body. Teeth and hair can also be affected. It is noticed in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Large, late-closing soft spots on the skull
- Early cataracts
- Wide-set eyes (hypertelorism)
- Small teeth and early tooth loss
- Prominent forehead
- Brittle or coarse hair
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SEC23A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by changes in the SEC23A gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: boyadjiev jabs syndrome; boyadjiev-jabs syndrome; clsd; cranio-lenticulo-sutural dysplasia, clsd
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniolenticulosutural dysplasia.
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