Overview
Hypotonia-speech impairment-severe cognitive delay syndrome is an extremely rare genetic condition that affects brain development and function from early in life. The disease is also sometimes referred to by its association with the SETD5 gene. Children born with this condition typically show low muscle tone (hypotonia) from infancy, which can make them appear floppy and delay their ability to sit, crawl, and walk. As they grow, significant delays in speech and language development become apparent, and most affected individuals experience severe intellectual disability that impacts their ability to learn, communicate, and perform daily tasks independently. Other features that may be seen include behavioral difficulties such as autism-like behaviors, attention problems, and sometimes aggression or self-injury. Some children may also have subtle differences in facial features, feeding difficulties in infancy, and occasional seizures. Growth may be affected, and some individuals are shorter than expected for their age. There is currently no cure for this condition. Treatment focuses on managing symptoms and maximizing each person's abilities through early intervention programs, speech therapy, physical therapy, occupational therapy, and behavioral support. Medications may be used to manage seizures or behavioral challenges when needed. A team of specialists working together provides the best outcomes for affected individuals and their families.
Also known as:
Key symptoms:
Low muscle tone (floppiness) in infancySevere intellectual disabilityDelayed or absent speechDelayed motor milestones like sitting and walkingBehavioral problems including autism-like featuresFeeding difficulties in infancySeizures or epilepsyAttention difficultiesSubtle differences in facial featuresShort stature or poor growthSelf-injurious behaviorSleep disturbancesPoor coordinationDifficulty with fine motor skills like grasping objects
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
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Hypotonia-speech impairment-severe cognitive delay syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Hypotonia-speech impairment-severe cognitive delay syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Hypotonia-speech impairment-severe cognitive delay 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 Hypotonia-speech impairment-severe cognitive delay syndrome.
Community
No community posts yet. Be the first to share your experience with Hypotonia-speech impairment-severe cognitive delay syndrome.
Start the conversation →Latest news about Hypotonia-speech impairment-severe cognitive delay syndrome
No recent news articles for Hypotonia-speech impairment-severe cognitive delay syndrome.
Follow this condition to be notified when news becomes available.
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 SETD5 mutation does my child have, and does it tell us anything about severity?,What therapies should we start right away, and how often should they occur?,Should we be watching for seizures, and what should we do if one happens?,Are there any clinical trials or research studies we could participate in?,What kind of educational setting would be best for my child?,Should other family members be tested for this genetic change?,What is the long-term outlook for my child's independence and communication?
Common questions about Hypotonia-speech impairment-severe cognitive delay syndrome
What is Hypotonia-speech impairment-severe cognitive delay syndrome?
Hypotonia-speech impairment-severe cognitive delay syndrome is an extremely rare genetic condition that affects brain development and function from early in life. The disease is also sometimes referred to by its association with the SETD5 gene. Children born with this condition typically show low muscle tone (hypotonia) from infancy, which can make them appear floppy and delay their ability to sit, crawl, and walk. As they grow, significant delays in speech and language development become apparent, and most affected individuals experience severe intellectual disability that impacts their abili
How is Hypotonia-speech impairment-severe cognitive delay syndrome inherited?
Hypotonia-speech impairment-severe cognitive delay syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hypotonia-speech impairment-severe cognitive delay syndrome typically begin?
Typical onset of Hypotonia-speech impairment-severe cognitive delay syndrome is infantile. Age of onset can vary across affected individuals.