Overview
Lethal occipital encephalocele-skeletal dysplasia syndrome is an extremely rare and severe condition that is present at birth. In this syndrome, a baby is born with an occipital encephalocele, which means that part of the brain and its covering membranes push out through an opening in the back of the skull. Along with this brain defect, the baby also has skeletal dysplasia, meaning the bones do not develop properly. This can include shortened limbs, abnormal rib and spine formation, and other bone abnormalities. The combination of these serious problems makes this condition lethal, meaning affected babies typically do not survive long after birth. This syndrome falls within a group of conditions sometimes compared to Meckel syndrome and other similar disorders that combine brain malformations with skeletal and sometimes kidney or other organ problems. Because of its extreme rarity, very little is known about the full range of features. There are no curative treatments available. Medical care focuses on comfort and supportive measures for the newborn and emotional support for the family. Genetic counseling is strongly recommended for affected families to understand the risk of recurrence in future pregnancies. Prenatal ultrasound may detect the encephalocele and skeletal abnormalities during pregnancy, which can help families prepare and make informed decisions.
Key symptoms:
Brain tissue protruding through an opening at the back of the skull (occipital encephalocele)Abnormal bone development (skeletal dysplasia)Shortened limbsAbnormally shaped ribsSpine abnormalitiesSmall or underdeveloped chestAbnormal skull shapeSevere neurological impairmentBreathing difficulties at birthPossible kidney abnormalitiesFailure to thrive
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 Lethal occipital encephalocele-skeletal dysplasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Lethal occipital encephalocele-skeletal dysplasia syndrome.
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 Lethal occipital encephalocele-skeletal dysplasia syndrome.
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.What exactly does this diagnosis mean for our baby?,How was this diagnosis confirmed, and could it be something else?,What comfort care options are available for our baby?,What is the chance this could happen again in a future pregnancy?,Is genetic testing available to help us understand the cause?,Can we be referred to a genetic counselor and palliative care team?,What support services are available for our family during this time?
Common questions about Lethal occipital encephalocele-skeletal dysplasia syndrome
What is Lethal occipital encephalocele-skeletal dysplasia syndrome?
Lethal occipital encephalocele-skeletal dysplasia syndrome is an extremely rare and severe condition that is present at birth. In this syndrome, a baby is born with an occipital encephalocele, which means that part of the brain and its covering membranes push out through an opening in the back of the skull. Along with this brain defect, the baby also has skeletal dysplasia, meaning the bones do not develop properly. This can include shortened limbs, abnormal rib and spine formation, and other bone abnormalities. The combination of these serious problems makes this condition lethal, meaning aff
How is Lethal occipital encephalocele-skeletal dysplasia syndrome inherited?
Lethal occipital encephalocele-skeletal dysplasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Lethal occipital encephalocele-skeletal dysplasia syndrome typically begin?
Typical onset of Lethal occipital encephalocele-skeletal dysplasia syndrome is neonatal. Age of onset can vary across affected individuals.