Living with Craniotelencephalic dysplasia
An extremely rare syndrome with early skull closure, a bulge of brain tissue at the forehead, and severe brain differences.
Understanding Craniotelencephalic dysplasia
A frontal encephalocele is a bulge of brain tissue through the forehead. Brain differences can include extra fluid, a missing corpus callosum, and smooth or abnormal brain folds. These cause marked brain dysfunction, seizures, and very severe delays in development. GARD notes there have been no further descriptions in the medical literature since 1983. It is present from birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early closure of skull bones (craniosynostosis)
- Frontal encephalocele
- Extra fluid in the brain (hydrocephalus)
- Seizures
- Global developmental delay
- Vision problems
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, brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: World Craniofacial Foundation, Epilepsy 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
GARD says changes in genes cause this condition. It doesn't name a gene.
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
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Craniotelencephalic dysplasia.
Explore research for Craniotelencephalic dysplasia
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