Living with ZTTK syndrome
A rare genetic condition with developmental delay, intellectual disability, brain and bone differences, and distinct facial features.
Understanding ZTTK syndrome
Brain differences can include unusual folding of the brain, larger fluid spaces, and a smaller corpus callosum and cerebellum. Some people have spine differences like scoliosis, stiff joints, eye problems, seizures, short height, and heart or digestive problems. Onset is listed at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability
- Global developmental delay
- Low muscle tone in infancy
- Feeding difficulties in infancy
- Seizures
- Crossed eyes (strabismus) and farsightedness
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in SON are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the SON gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome; brain malformations, musculoskeletal abnormalities, facial dysmorphism, intellectual disability syndrome; tokims; tokita-kim syndrome; zhu tokita takenouchi kim syndrome; zhu-tokita-takenouchi-kim syndrome
Patient organizations
- Simons SearchlightZTTK syndrome · United States
- ZTTK SON-Shine FoundationZTTK syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with ZTTK syndrome.
Explore research for ZTTK syndrome
Explore actively recruiting ZTTK syndrome studies with HealthSpark.
Find actively recruiting studies for ZTTK syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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