Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Synonyms: ZTTK syndrome | Zhu-Tokita-Takenouchi-Kim syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay intellectual disability and mild to moderate facial dysmorphism in association with variable brain malformations (including abnormal gyration patterns ventriculomegaly white matter abnormalities hypoplasia of the corpus callosum and cerebellar hemispheres) musculoskeletal abnormalities (including hemivertebrae scoliosis or kyphosis contractures and joint laxity) ocular involvement (strabismus hypermetropia and cortical visual impairment) and hypotonia. Additional clinical manifestations may include seizures short stature urogenital malformations heart defects and gastrointestinal malformations.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
DDX3X Foundation
Our mission is to connect families, resources, and the medical community to advance research for a treatment or cure to DDX3X Syndrome. Our ultimate goal is to accelerate brain function in individuals affected by DDX3X Syndrome through advances in cell and gene therapy and pharmaceuticals.
Moonshots for Unicorns
Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
ZTTK SON-Shine Foundation
To aid, connect, support, advocate, raise awareness, promote research and education about ZTTK Syndrome for patients and families
Clinical Trials
For a list of clinical trials in this disease area, please click here.