Overview
Cerebrofaciothoracic dysplasia, also known as Pascual-Castroviejo syndrome, is an extremely rare genetic condition that affects the development of the brain, face, and chest (thorax). People with this condition typically have distinctive facial features, abnormalities of the rib cage and spine, and varying degrees of intellectual disability. The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and a small jaw. Chest abnormalities often involve short or fused ribs and an unusually shaped rib cage, which can sometimes affect breathing. Vertebral (spine) abnormalities are also common and may include fused or malformed vertebrae. Some individuals may also have short stature and limb abnormalities. Because this condition is so rare, with only a handful of cases described in the medical literature, the full range of symptoms and the best approaches to treatment are still being understood. There is currently no cure for cerebrofaciothoracic dysplasia. Treatment focuses on managing individual symptoms, which may include surgical correction of skeletal abnormalities, respiratory support if breathing is affected, and educational support for developmental delays. A team of specialists is usually needed to provide comprehensive care.
Also known as:
Key symptoms:
Distinctive facial features such as broad forehead and widely spaced eyesSmall or receding jawFlat nasal bridgeShort or fused ribsAbnormally shaped chestFused or malformed vertebrae in the spineShort statureIntellectual disability or developmental delaysBreathing difficulties due to small chestLimb abnormalitiesLow-set earsDelayed speech development
Clinical phenotype terms (35)— 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 Cerebrofaciothoracic dysplasia.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Cerebrofaciothoracic dysplasia at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Cerebrofaciothoracic 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 Cerebrofaciothoracic dysplasia.
Community
No community posts yet. Be the first to share your experience with Cerebrofaciothoracic dysplasia.
Start the conversation →Latest news about Cerebrofaciothoracic dysplasia
No recent news articles for Cerebrofaciothoracic 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.How severe are my child's chest and spine abnormalities, and will they need surgery?,What breathing support might my child need now or in the future?,What developmental therapies should we start, and how often?,Should we pursue genetic testing, and what might it tell us?,What is the expected developmental outlook for my child?,Are there any clinical studies or research programs we could participate in?,What specialists should be part of my child's care team?
Common questions about Cerebrofaciothoracic dysplasia
What is Cerebrofaciothoracic dysplasia?
Cerebrofaciothoracic dysplasia, also known as Pascual-Castroviejo syndrome, is an extremely rare genetic condition that affects the development of the brain, face, and chest (thorax). People with this condition typically have distinctive facial features, abnormalities of the rib cage and spine, and varying degrees of intellectual disability. The facial features may include a broad forehead, widely spaced eyes, a flat nasal bridge, and a small jaw. Chest abnormalities often involve short or fused ribs and an unusually shaped rib cage, which can sometimes affect breathing. Vertebral (spine) abno
How is Cerebrofaciothoracic dysplasia inherited?
Cerebrofaciothoracic dysplasia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Cerebrofaciothoracic dysplasia typically begin?
Typical onset of Cerebrofaciothoracic dysplasia is neonatal. Age of onset can vary across affected individuals.