Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Engelsk navn: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
Engelske synonym: ZTTK syndrome,Zhu-Tokita-Takenouchi-Kim syndrome
Definisjon
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.
Fra Orphanet
ORPHA: 500150
Klassifiseringsnivå: Disorder
ICD-10: Q87.8
