Overview
Dysraphism-cleft lip/palate-limb reduction defects syndrome is an extremely rare condition present from birth that affects several parts of the body at the same time. 'Dysraphism' refers to problems with the neural tube — the structure that forms the brain and spinal cord during early pregnancy. When this does not close properly, it can lead to serious defects of the spine and brain. Children with this syndrome also tend to be born with a cleft lip and/or cleft palate, which means there is a gap or split in the upper lip or the roof of the mouth. In addition, they may have limb reduction defects, meaning that one or more limbs (arms or legs) may be underdeveloped, shorter than normal, or partially missing. This combination of features makes the syndrome very complex and affects multiple body systems from birth. The exact cause is not fully understood, and only a very small number of cases have been reported in the medical literature. Because of this, doctors and researchers still have much to learn about why it happens and how best to treat it. Treatment focuses on managing each individual problem rather than curing the underlying condition. Surgical repair of the cleft lip and palate is usually done in infancy. Spinal defects may require surgery and ongoing neurological care. Limb differences are managed with prosthetics, physical therapy, and occupational therapy. A team of specialists working together gives children the best chance at a good quality of life.
Also known as:
Key symptoms:
Incomplete closure of the spine or brain (neural tube defect)Cleft lip — a split or gap in the upper lipCleft palate — an opening in the roof of the mouthMissing or underdeveloped arms or legs (limb reduction defects)Possible paralysis or weakness in the legs depending on spinal involvementBladder and bowel control problems related to spinal defectsDifficulty feeding in infancy due to cleft palatePossible hydrocephalus (fluid buildup in the brain)Increased risk of infections such as meningitis if the spinal cord is exposedPossible intellectual or developmental delays depending on brain involvement
Clinical phenotype terms (9)— 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 Dysraphism-cleft lip/palate-limb reduction defects syndrome.
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Specialists
View all specialists →No specialists are currently listed for Dysraphism-cleft lip/palate-limb reduction defects 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 Dysraphism-cleft lip/palate-limb reduction defects 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 is the full extent of my child's spinal defect, and what does that mean for their movement and bladder control?,What surgeries will my child need, and in what order should they happen?,Should we do genetic testing, and what might it tell us about the cause and risk for future pregnancies?,What therapies should we start right away, and how often will my child need them?,Are there any specialists or centers with experience in this specific combination of conditions?,What signs should prompt me to seek emergency care?,What support services or patient organizations are available to help our family?
Common questions about Dysraphism-cleft lip/palate-limb reduction defects syndrome
What is Dysraphism-cleft lip/palate-limb reduction defects syndrome?
Dysraphism-cleft lip/palate-limb reduction defects syndrome is an extremely rare condition present from birth that affects several parts of the body at the same time. 'Dysraphism' refers to problems with the neural tube — the structure that forms the brain and spinal cord during early pregnancy. When this does not close properly, it can lead to serious defects of the spine and brain. Children with this syndrome also tend to be born with a cleft lip and/or cleft palate, which means there is a gap or split in the upper lip or the roof of the mouth. In addition, they may have limb reduction defec
At what age does Dysraphism-cleft lip/palate-limb reduction defects syndrome typically begin?
Typical onset of Dysraphism-cleft lip/palate-limb reduction defects syndrome is neonatal. Age of onset can vary across affected individuals.