Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome

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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. Ā© INSERM 1999. Available on http://www.orphadata.org. Data version March 2024

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