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Genetic and Rare Diseases Information Center (GARD)

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Anophthalmia plus syndrome

Other Names for this Disease
  • Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder
  • Fryns anophthalmia syndrome
  • Fryns microphthalmia syndrome
  • Leichtman Wood Rohn syndrome
  • Microphthalmia with facial clefting
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Tests & Diagnosis

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How is anophthalmia plus syndrome diagnosed?

A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies).[1] A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.
Last updated: 11/18/2011

  1. Wiltshire, Esko; Moore, Mark; Casey, Theresa; Smith, Greg; Smith, Scott; Thompson, Elizabeth. Fryns ‘Anophthalmia-Plus’ syndrome associated with developmental regression. Clinical Dysmorphology. January 2003; 12(1):41-43.