ZTTK syndrome

ZTTK syndrome, also known as Zhu-Tokita-Takenouchi-Kim syndrome, is a rare genetic disorder that Orphanet classifies as a multiple congenital anomalies and dysmorphic syndrome. Children with it show developmental delay, intellectual disability and mild to moderate differences in facial appearance, together with a variable pattern of brain malformations. The brain findings that Orphanet lists include abnormal folding of the cortex, enlarged ventricles, changes in the white matter and an underdeveloped corpus callosum and cerebellar hemispheres. Many people also have musculoskeletal problems such as hemivertebrae, curvature of the spine, contractures and loose joints, eye involvement such as strabismus, hypermetropia and cortical visual impairment, and low muscle tone. Seizures, short stature, urogenital malformations, heart defects and gastrointestinal malformations can also occur. Orphanet also lists the descriptive name facial dysmorphism, brain malformations, musculoskeletal abnormalities, intellectual disability syndrome.