clinical features

Last reviewed 01/2018

The most typical features are:

  • hypoplasia of one limb
  • cicatricial lesions with a dermatomal distribution

Other features include:

  • neurological abnormalities:
    • hydrocephalus
    • microcephaly
    • Horner's syndrome
  • eye abnormalities:
    • cataracts
    • chorioretinitis
    • microphthalmia
  • growth retardation
  • gastrointestinal structural defects
  • genitourinary structural defects