Overview
Schuurs-Hoeijmakers syndrome, also known as PACS1-related syndrome or PACS1 neurodevelopmental disorder, is a rare genetic condition caused by a change (mutation) in the PACS1 gene. This syndrome affects multiple parts of the body and is characterized by intellectual disability, distinctive facial features, and developmental delays. Children with this condition typically have delays in reaching milestones like sitting, walking, and talking. The facial features often include a flat nasal bridge, widely spaced eyes, thin upper lip, and low-set ears. Many individuals also experience seizures, feeding difficulties in infancy, and behavioral challenges. Beyond the brain and face, Schuurs-Hoeijmakers syndrome can affect the heart, eyes, and digestive system. Some children are born with heart defects, and others may have vision problems or issues with bowel movements (such as constipation). Behavioral features can include autism spectrum traits, anxiety, and difficulty with social interactions. There is currently no cure for Schuurs-Hoeijmakers syndrome. Treatment focuses on managing individual symptoms and supporting development. This includes speech therapy, physical therapy, occupational therapy, and special education services. Seizures can often be managed with anti-seizure medications. Heart defects may require surgical repair. Early intervention and a team of specialists working together can significantly improve quality of life for affected individuals and their families.
Key symptoms:
Intellectual disability (usually mild to moderate)Delayed speech and language developmentDelayed motor milestones like walkingDistinctive facial featuresSeizures or epilepsyFeeding difficulties in infancyLow muscle tone (floppy muscles)Heart defects present at birthVision problems or crossed eyesBehavioral challenges including autism-like traitsConstipation or digestive issuesWidely spaced eyesFlat nasal bridgeSmall head sizeHearing problems
Clinical phenotype terms (50)— 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 Schuurs-Hoeijmakers syndrome.
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Specialists
View all specialists →No specialists are currently listed for Schuurs-Hoeijmakers 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 Schuurs-Hoeijmakers 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.What specific PACS1 mutation does my child have, and what does it mean for their development?,What therapies should we start right away, and how often should they occur?,Does my child need a heart evaluation or any other organ screening?,What should I do if my child has a seizure, and when should I call emergency services?,What educational supports and accommodations should I request at school?,Are there any clinical trials or research studies we could participate in?,What is the chance of having another child with this condition?
Common questions about Schuurs-Hoeijmakers syndrome
What is Schuurs-Hoeijmakers syndrome?
Schuurs-Hoeijmakers syndrome, also known as PACS1-related syndrome or PACS1 neurodevelopmental disorder, is a rare genetic condition caused by a change (mutation) in the PACS1 gene. This syndrome affects multiple parts of the body and is characterized by intellectual disability, distinctive facial features, and developmental delays. Children with this condition typically have delays in reaching milestones like sitting, walking, and talking. The facial features often include a flat nasal bridge, widely spaced eyes, thin upper lip, and low-set ears. Many individuals also experience seizures, fee
How is Schuurs-Hoeijmakers syndrome inherited?
Schuurs-Hoeijmakers syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Schuurs-Hoeijmakers syndrome typically begin?
Typical onset of Schuurs-Hoeijmakers syndrome is neonatal. Age of onset can vary across affected individuals.