Overview
Craniotelencephalic dysplasia is an extremely rare birth defect that affects the development of the skull and brain. The name comes from 'cranio' (skull) and 'telencephalic' (referring to the largest part of the brain, the cerebrum), and 'dysplasia' (abnormal development). In this condition, the brain does not form properly during pregnancy, and the skull bones also develop abnormally. Babies born with this condition typically have severe abnormalities of the brain structure, including disorganized or underdeveloped brain tissue, along with unusual skull shape and facial features. The condition is present at birth and is usually apparent immediately due to the visible skull and facial abnormalities. Key features may include a markedly abnormal head shape, widely spaced or absent skull bones, severe brain malformations, facial abnormalities, and profound developmental delays. Some affected infants may also have other organ abnormalities. Because the brain is so severely affected, children with this condition typically have very significant intellectual disability and neurological problems. There is currently no cure or specific treatment for craniotelencephalic dysplasia. Management is supportive and focuses on addressing individual symptoms, providing comfort care, and supporting the family. Due to the severity of the brain malformations, the prognosis is generally very poor, and many affected infants do not survive the newborn period or early infancy. Families affected by this condition benefit from a multidisciplinary medical team and genetic counseling.
Key symptoms:
Severely abnormal head shapeMissing or poorly formed skull bonesSevere brain malformationProfound intellectual disabilitySeizuresAbnormal facial featuresWidely spaced eyesFlat or underdeveloped noseFailure to thriveDifficulty feedingSevere developmental delayAbnormal muscle toneBreathing difficulties
Clinical phenotype terms (15)— hover any for plain English
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Craniotelencephalic dysplasia.
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Specialists
View all specialists →No specialists are currently listed for Craniotelencephalic 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 Craniotelencephalic dysplasia.
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.How severe are the brain abnormalities in my child's case?,What is the expected outlook for my child?,Are there any genetic tests that could help explain the cause?,What supportive treatments are available to keep my child comfortable?,Should we involve a palliative care team?,Is there a risk of this condition occurring again in future pregnancies?,Are there any clinical studies or research programs we could participate in?
Common questions about Craniotelencephalic dysplasia
What is Craniotelencephalic dysplasia?
Craniotelencephalic dysplasia is an extremely rare birth defect that affects the development of the skull and brain. The name comes from 'cranio' (skull) and 'telencephalic' (referring to the largest part of the brain, the cerebrum), and 'dysplasia' (abnormal development). In this condition, the brain does not form properly during pregnancy, and the skull bones also develop abnormally. Babies born with this condition typically have severe abnormalities of the brain structure, including disorganized or underdeveloped brain tissue, along with unusual skull shape and facial features. The conditio
At what age does Craniotelencephalic dysplasia typically begin?
Typical onset of Craniotelencephalic dysplasia is neonatal. Age of onset can vary across affected individuals.