Clinical Characteristics

The most typical features of DeSanto-Shinawi syndrome include:

  • Floppiness in the neonatal period or infancy (also referred as hypotonia).
  • Feeding difficulties sometimes requiring assistance or tube feeding.
  • Delays in reaching developmental milestones such as sitting up, crawling and walking. The appearance of first words or phrases or phrases is frequently delayed.
  • Intellectual disability (possibly requiring special education).
  • Behaviour problems, namely anxiety, inability to stand still or concentrate and difficulties getting or staying asleep.


Facial characteristics that appear to occur more commonly among the affected individuals include:

  • A high forehead
  • Fusion of the eyebrows in the midline above the nose
  • Sunken eyes with increased distance between each other
  • A depression in the upper part and a rounded tip at the lower part of the nose
  • A particular shape or position of the ears
  • Broad mouth and broad chin

Other characteristics that may be helpful in recognizing the syndrome include the presence of short fingers in the hands as well as deformities of the lower feet.


Other common problems may include:

  • Poor vision (near or far sighted, “crossed” eye, immaturity in processing the visual stimuli)
  • Respiratory abnormalities (unexplained alterations in the respiratory frequency, asthma and frequent respiratory infections)
  • Gastrointestinal complaints including constipation or gastrointestinal reflux (spitting up, acid reflux, etc.)

A few individuals have been reported to have hearing problems or seizures.