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Clinical features

Authoring team

This syndrome is characterised by:

  • distinct facies
  • abnormalities of hands and feet:
    • broad thumbs and toes
    • clinodactyly
    • dislocation of the radial head
    • hip dislocation
  • proportionate short stature
  • occasionally mental retardation
  • undescended testes

The distinct facies includes:

  • prominent supraorbital ridges
  • a broad nasal root
  • flattening of the midface
  • micrognathia
  • anti-mongoloid slant of eyes

There is an association between cleft palate and conductive deafness.

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The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

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