clinical features

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Patients tend to have a characteristic appearance with a typical face:

  • brachycephaly
  • short neck
  • epicanthic folds on the medial aspect of the eyes
  • an inward down - mongoloid - slant to the eyes
  • Brushfield spots on the iris
  • almond shaped eyes
  • small simple ears, which may be low set
  • flat nasal bridge
  • protruding tongue, mouth hanging open
  • narrow high arched palate

Other features include:

  • hypotonia, often noted at birth
  • short fingers and especially short or absent second phalanx in the fifth digit
  • clinodactyly
  • transverse tongue fissures
  • congenital heart lesions
  • mental retardation, with a majority having an IQ less than 50
  • single, simian crease in about 45%
  • wide space between first and second toes
  • straight pubic hair
  • cataract in 60% of patients

Last reviewed 01/2018