Overview
Takenouchi-Kosaki syndrome is a very rare genetic condition caused by a change (mutation) in a gene called CDC42. This gene plays an important role in how cells grow, divide, and communicate with each other. When CDC42 does not work properly, it affects the development of many parts of the body, especially the brain, heart, immune system, and blood cells. The syndrome is sometimes referred to as TKS for short. People with Takenouchi-Kosaki syndrome are usually identified in infancy or early childhood. Common features include intellectual disability, delayed development, distinctive facial features, and problems with the heart. Many individuals also have issues with their blood cells, such as a condition called thrombocytopenia (low platelet count), which can cause easy bruising or bleeding. Some people have hearing loss, vision problems, or a smaller-than-usual head size (microcephaly). There is currently no cure for Takenouchi-Kosaki syndrome. Treatment focuses on managing each person's specific symptoms. This may include therapies to support development, heart surgery if needed, and regular monitoring by a team of specialists. Because the condition is so rare, care is highly individualized and often guided by clinical geneticists working alongside other specialists.
Also known as:
Key symptoms:
Intellectual disability or learning difficultiesDelayed development (sitting, walking, talking later than expected)Distinctive facial features (wide-set eyes, flat nasal bridge, low-set ears)Low platelet count (thrombocytopenia), causing easy bruising or bleedingCongenital heart defectsSmall head size (microcephaly)Hearing lossVision problemsShort statureImmune system problems (frequent infections)Feeding difficulties in infancyLymphedema (swelling due to fluid buildup)Skin abnormalities
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 Takenouchi-Kosaki syndrome.
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Specialists
View all specialists →No specialists are currently listed for Takenouchi-Kosaki 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 Takenouchi-Kosaki 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 mutation was found in the CDC42 gene, and what does it mean for my child's health?,Which specialists should be part of my child's care team, and how often should we see each one?,What signs of bleeding or infection should prompt an emergency visit?,Are there any clinical trials or research studies we could participate in?,What therapies (speech, physical, occupational) would benefit my child most right now?,Should other family members be tested, and what is the chance of this happening again in a future pregnancy?,What educational and community support services are available for my child?
Common questions about Takenouchi-Kosaki syndrome
What is Takenouchi-Kosaki syndrome?
Takenouchi-Kosaki syndrome is a very rare genetic condition caused by a change (mutation) in a gene called CDC42. This gene plays an important role in how cells grow, divide, and communicate with each other. When CDC42 does not work properly, it affects the development of many parts of the body, especially the brain, heart, immune system, and blood cells. The syndrome is sometimes referred to as TKS for short. People with Takenouchi-Kosaki syndrome are usually identified in infancy or early childhood. Common features include intellectual disability, delayed development, distinctive facial fea
How is Takenouchi-Kosaki syndrome inherited?
Takenouchi-Kosaki syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Takenouchi-Kosaki syndrome typically begin?
Typical onset of Takenouchi-Kosaki syndrome is neonatal. Age of onset can vary across affected individuals.