Overview
Diaphragmatic defect-limb deficiency-skull defect syndrome is an extremely rare condition that affects multiple parts of the body during development before birth. It is also known by its historical name, which references the three main areas involved: the diaphragm (the muscle that separates the chest from the abdomen and helps with breathing), the limbs (arms and/or legs), and the skull. Babies born with this syndrome may have a hole or weakness in the diaphragm (called a diaphragmatic hernia), missing or underdeveloped parts of the arms or legs, and openings or defects in the bones of the skull. Because the diaphragm is affected, breathing problems can be severe and life-threatening at birth. The limb abnormalities can range from missing fingers or toes to more significant shortening or absence of entire limb segments. Skull defects may include gaps in the bone that normally protects the brain. Other features may include abnormalities of the heart, kidneys, or other organs. Treatment is primarily supportive and surgical, focusing on repairing the diaphragmatic hernia, managing breathing difficulties, and addressing limb and skull defects as needed. Because this syndrome is so rare, there is no standardized treatment protocol, and care must be tailored to each individual's specific combination of birth defects.
Also known as:
Key symptoms:
Hole or weakness in the diaphragm (diaphragmatic hernia)Breathing difficulties at birthMissing or underdeveloped arms or legsMissing fingers or toesOpenings or gaps in the skull bonesAbnormal shape of the headHeart defectsKidney abnormalitiesShortened limbsFeeding difficultiesPoor growthAbdominal organs pushed up into the chest
Clinical phenotype terms (16)— hover any for plain English
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Diaphragmatic defect-limb deficiency-skull defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Diaphragmatic defect-limb deficiency-skull defect 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 Diaphragmatic defect-limb deficiency-skull defect 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.How severe is my child's diaphragmatic hernia, and what is the surgical plan?,Are there any heart, kidney, or other organ problems we need to address?,What is the expected timeline for surgeries and recovery?,Should we pursue genetic testing, and what might it tell us about recurrence risk for future pregnancies?,What therapies and support services should we start, and when?,What are the warning signs that should prompt us to seek emergency care?,Are there other families or support groups for children with similar conditions?
Common questions about Diaphragmatic defect-limb deficiency-skull defect syndrome
What is Diaphragmatic defect-limb deficiency-skull defect syndrome?
Diaphragmatic defect-limb deficiency-skull defect syndrome is an extremely rare condition that affects multiple parts of the body during development before birth. It is also known by its historical name, which references the three main areas involved: the diaphragm (the muscle that separates the chest from the abdomen and helps with breathing), the limbs (arms and/or legs), and the skull. Babies born with this syndrome may have a hole or weakness in the diaphragm (called a diaphragmatic hernia), missing or underdeveloped parts of the arms or legs, and openings or defects in the bones of the sk
At what age does Diaphragmatic defect-limb deficiency-skull defect syndrome typically begin?
Typical onset of Diaphragmatic defect-limb deficiency-skull defect syndrome is neonatal. Age of onset can vary across affected individuals.