Living with Lethal occipital encephalocele-skeletal dysplasia syndrome
A rare inherited bone condition with skull bone differences at the back of the head and changes in the hands, feet, and limbs.
Understanding Lethal occipital encephalocele-skeletal dysplasia syndrome
Bones at the back of the head are underdeveloped, which can cause an encephalocele (a sac of brain tissue pushed through the skull). Other features include skull bone fusing early, missing fingers or toes, shortened limbs, long thin fingers, and fused bones in the arm. It may be noticed in newborns and infants.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes these features:
- Encephalocele at the back of the head
- Underdeveloped skull bones
- Early fusing of skull bones (craniosynostosis)
- Fewer than usual fingers or toes (oligodactyly)
- Shortened limbs
- Long, thin fingers (arachnodactyly)
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 bone and joint specialists and genetic specialists.
- 3Consider genetic testing
Changes in CYP26B1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 World Craniofacial Foundation and other patient organizations
- 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 CYP26B1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies
Patient organizations
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Lethal occipital encephalocele-skeletal dysplasia syndrome.
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