Overview
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its main features: severe hypotonia (very low muscle tone, meaning muscles are unusually floppy and weak), psychomotor developmental delay (slow development of both movement and thinking skills), strabismus (crossed or misaligned eyes), and cardiac septal defects (holes in the walls between the chambers of the heart). Children with this condition typically show significant delays in reaching milestones such as sitting, crawling, and walking. The low muscle tone can also affect feeding and breathing in early life. The heart defects can range from small holes that may close on their own to larger defects that may require surgical repair. Because this syndrome affects the brain, muscles, eyes, and heart, children usually need care from multiple specialists. Treatment is supportive and focuses on managing each symptom individually. Physical therapy, occupational therapy, and speech therapy are commonly used to help children reach their developmental potential. Heart defects may be monitored or surgically corrected depending on severity. Eye alignment issues may be treated with glasses, patching, or surgery. There is currently no cure for this condition, and management is aimed at improving quality of life and supporting development as much as possible.
Key symptoms:
Very floppy or weak muscles from birthDelayed motor milestones like sitting, crawling, and walkingIntellectual disability or learning difficultiesCrossed or misaligned eyes (strabismus)Hole in the heart (cardiac septal defect)Feeding difficulties in infancyPoor head controlSpeech and language delaysReduced muscle strengthPossible breathing difficultiesDelayed social and cognitive developmentPoor coordination
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal 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 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal 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
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 is my child's heart defect, and will it need surgery?,What therapies should we start right away to support my child's development?,Should we pursue genetic testing, and what type is recommended?,What signs of complications should I watch for at home?,How often should my child see a cardiologist and eye doctor?,Are there any clinical trials or research studies my child might be eligible for?,What educational and support services are available for my child?
Common questions about Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
What is Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome?
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is an extremely rare genetic condition that affects multiple body systems from birth. The name describes its main features: severe hypotonia (very low muscle tone, meaning muscles are unusually floppy and weak), psychomotor developmental delay (slow development of both movement and thinking skills), strabismus (crossed or misaligned eyes), and cardiac septal defects (holes in the walls between the chambers of the heart). Children with this condition typically show significant delays in reaching milestone
How is Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome inherited?
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome typically begin?
Typical onset of Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is neonatal. Age of onset can vary across affected individuals.