Zttk Syndrome; Zttks


ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

Incidence and onset information

Not enough data available about incidence and published cases.

Zttk Syndrome; Zttks Common symptoms

Top most frequent phenotypes related to Zttk Syndrome; Zttks

  • Arachnoid cyst
  • Cortical visual impairment
  • Hemivertebrae
  • Horseshoe kidney
  • Joint hypermobility
  • Small hand
  • Hypermetropia
  • Abnormality of the ribs
  • Facial asymmetry
  • Short foot
  • Craniosynostosis
  • Developmental regression
  • Thin upper lip vermilion
  • Deeply set eye
  • Short philtrum
View the complete list of symptoms

Genes related to Zttk Syndrome; Zttks

  • SON

Alternate names

Zttk Syndrome; Zttks Is also known as zhu-tokita-takenouchi-kim syndrome, zttk multiple congenital anomalies-mental retardation syndrome.



Other rare diseases that you may find interesting