Overview
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is an extremely rare genetic condition caused by changes (mutations) in the FBLN1 gene. This gene provides instructions for making a protein called fibulin-1, which plays an important role in building and maintaining the body's connective tissues and in normal development of the brain and limbs. When this gene does not work properly, it can lead to a combination of problems including delayed development, abnormalities in the brain and central nervous system, and syndactyly (webbing or fusion of the fingers or toes). Children with this condition typically show delays in reaching developmental milestones such as sitting, walking, and talking. Brain imaging may reveal structural differences in the central nervous system. The syndactyly can range from mild webbing between fingers or toes to more significant fusion. Other features may include distinctive facial characteristics, intellectual disability, and skeletal abnormalities. Because this syndrome is so rare, there is no specific cure or targeted treatment available. Management focuses on addressing individual symptoms through supportive therapies such as physical therapy, occupational therapy, speech therapy, and surgical correction of syndactyly when needed. A team of specialists typically works together to provide the best possible care for affected individuals.
Key symptoms:
Delayed development (sitting, walking, talking later than expected)Intellectual disabilityWebbed or fused fingers or toes (syndactyly)Brain abnormalities visible on imagingDistinctive facial featuresShort stature or growth delaysSkeletal abnormalitiesLow muscle tone (feeling floppy)Speech and language delaysMotor skill difficultiesSeizures in some casesLearning difficulties
Clinical phenotype terms (18)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for FBLN1-related developmental delay-central nervous system anomaly-syndactyly 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 FBLN1-related developmental delay-central nervous system anomaly-syndactyly 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
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 the brain abnormalities, and what do they mean for my child's development?,When is the best time to consider surgery for the syndactyly?,What therapies should we start right away, and how often?,Should other family members be tested for the FBLN1 gene change?,What developmental milestones should we watch for, and when should we be concerned?,Are there any clinical trials or research studies we could participate in?,What educational supports and services is my child entitled to?
Common questions about FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
What is FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome?
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is an extremely rare genetic condition caused by changes (mutations) in the FBLN1 gene. This gene provides instructions for making a protein called fibulin-1, which plays an important role in building and maintaining the body's connective tissues and in normal development of the brain and limbs. When this gene does not work properly, it can lead to a combination of problems including delayed development, abnormalities in the brain and central nervous system, and syndactyly (webbing or fusion of the fingers or
How is FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome inherited?
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome typically begin?
Typical onset of FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome is neonatal. Age of onset can vary across affected individuals.