Overview
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare genetic condition caused by changes in one copy of the SETD5 gene. This entry has been marked as obsolete in Orphanet, meaning it has been reclassified or merged into a broader category, but the condition itself is still recognized. The SETD5 gene plays an important role in brain development and how genes are regulated. When one copy of this gene does not work properly (called haploinsufficiency), it can lead to intellectual disability ranging from mild to severe, distinctive facial features, behavioral challenges, and delays in speech and motor development. Children with this condition often show developmental delays early in life, including late milestones for sitting, walking, and talking. Facial features may include a broad forehead, widely spaced eyes, a short nose, and a thin upper lip, though these can vary from person to person. Some individuals may also experience feeding difficulties in infancy, low muscle tone, and behavioral issues such as autism spectrum features or attention difficulties. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development through early intervention programs, speech therapy, occupational therapy, physical therapy, and behavioral support. Some individuals may benefit from special education services. The condition is now often classified under the broader umbrella of SETD5-related intellectual disability or neurodevelopmental disorders associated with SETD5 mutations.
Key symptoms:
Intellectual disability (mild to severe)Delayed speech and language developmentDelayed motor milestones like walkingDistinctive facial featuresBroad foreheadWidely spaced eyesLow muscle tone (hypotonia)Feeding difficulties in infancyBehavioral challengesAutism spectrum featuresAttention difficultiesShort stature in some casesThin upper lipHand and foot differences in some individualsSeizures in some cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency.
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Specialists
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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
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Community
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Caregiver Resources
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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 specific genetic change was found in my child's SETD5 gene, and what does it mean?,What therapies should we start right away to support my child's development?,Should we be concerned about seizures, and what signs should we watch for?,How often should my child have developmental assessments?,Are there any clinical trials or research studies we should know about?,What educational supports and accommodations should we request at school?,Should other family members be tested for this genetic change?
Common questions about OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
What is OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency?
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare genetic condition caused by changes in one copy of the SETD5 gene. This entry has been marked as obsolete in Orphanet, meaning it has been reclassified or merged into a broader category, but the condition itself is still recognized. The SETD5 gene plays an important role in brain development and how genes are regulated. When one copy of this gene does not work properly (called haploinsufficiency), it can lead to intellectual disability ranging from mild to severe, distinctive facial features, behavior
How is OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency inherited?
OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency typically begin?
Typical onset of OBSOLETE: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is infantile. Age of onset can vary across affected individuals.