Overview
ZTTK syndrome (also called Zhu-Tokita-Takenouchi-Kim syndrome) is a rare genetic condition caused by changes in a gene called SON. This gene plays an important role in how cells process genetic instructions, and when it does not work properly, it can affect the development of many parts of the body — especially the brain. The condition was first described in 2015 and only a small number of people worldwide have been diagnosed so far. People with ZTTK syndrome typically have intellectual disability, which can range from mild to severe, along with delayed development in areas like talking, walking, and learning. Many also have weak muscle tone (called hypotonia), which can make movement and feeding difficult, especially in infancy. Seizures are common, and some individuals have structural differences in the brain that can be seen on MRI scans. Other features may include vision problems, feeding difficulties, and distinctive facial features. There is currently no cure for ZTTK syndrome. Treatment focuses on managing symptoms and supporting development. This usually involves a team of specialists and therapies such as speech therapy, physical therapy, and occupational therapy. Seizures are managed with anti-epileptic medications. Early intervention and educational support can make a meaningful difference in quality of life.
Also known as:
Key symptoms:
Intellectual disability (difficulty with learning and thinking)Delayed speech and language developmentDelayed motor milestones such as sitting and walkingLow muscle tone (hypotonia)Seizures or epilepsyFeeding difficulties, especially in infancyDistinctive facial featuresBrain structural differences visible on MRIVision problemsShort statureBehavioral challengesSkeletal abnormalities such as scoliosis or joint problems
Clinical phenotype terms (50)— hover any for plain English
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for ZTTK syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for ZTTK 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 ZTTK 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 type of genetic change was found in the SON gene, and what does that mean for my child's outlook?,Should other family members be tested, and what is the chance of this happening again in a future pregnancy?,What therapies do you recommend starting right away, and how often should they happen?,What type of seizures does my child have, and what is the best medication to manage them?,Are there any ZTTK syndrome specialists or research centers we should connect with?,What developmental milestones should we realistically expect, and how can we best support progress?,Are there any clinical trials or research studies we could participate in?
Common questions about ZTTK syndrome
What is ZTTK syndrome?
ZTTK syndrome (also called Zhu-Tokita-Takenouchi-Kim syndrome) is a rare genetic condition caused by changes in a gene called SON. This gene plays an important role in how cells process genetic instructions, and when it does not work properly, it can affect the development of many parts of the body — especially the brain. The condition was first described in 2015 and only a small number of people worldwide have been diagnosed so far. People with ZTTK syndrome typically have intellectual disability, which can range from mild to severe, along with delayed development in areas like talking, walk
How is ZTTK syndrome inherited?
ZTTK syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does ZTTK syndrome typically begin?
Typical onset of ZTTK syndrome is neonatal. Age of onset can vary across affected individuals.