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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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Overview

What is anophthalmia plus syndrome?

What are the signs and symptoms of anophthalmia plus syndrome?

How is anophthalmia plus syndrome diagnosed?

What is anophthalmia plus syndrome?

Anophthalmia plus syndrome (APS) is a very rare syndrome that involves malformations in multiple organs of the body. The most common findings in affected individuals are anophthalmia (absence of one or both eyes) or severe microphthalmia (abnormally small eyes), and cleft lip and/or cleft palate. Other findings may include wide-set eyes (hypertelorism); low-set ears; narrowed or blocked nasal passages (choanal stenosis or atresia); sacral neural tube defect, midline abdominal wall defects, clinodactyly, eye colobomas and congenital glaucoma. It has been suggested that APS is inherited in an autosomal recessive manner, although the genetic cause has not yet been identified.[1]
Last updated: 11/17/2011

What are the signs and symptoms of anophthalmia plus syndrome?

Anophthalmia plus syndrome (APS) may involve malformations in multiple organs of the body including the eyes, ears, nose, face, mouth, brain, sacral vertebrae, meninges (tissue that lines the outer part of the brain and spinal cord), abdominal wall, heart, digits (fingers and toes), and endocrine system. Based on the few cases reported in the literature, it appears that all affected individuals have had anophthalmia (absence of one or both eyes) and/or microphthalmia (abnormally small eyes). It has also been estimated that approximately 89% of affected individuals have had an oral-facial cleft (such as cleft lip and/or cleft palate). Other specific findings that have been reported in more than one affected individual include wide-set eyes (hypertelorism), low-set ears, choanal stenosis or atresia (narrowing or blockage of the nasal passages), sacral neural tube defect, midline abdominal wall defects, clinodactyly (abnormally bent or curved finger), eye colobomas, and congenital glaucoma. There have been other, additional abnormalities that have only been reported in single individuals.[1]
Last updated: 11/18/2011

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).[2] 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

References
  1. Makhoul IR, Soudack M, Kochavi O, Guilburd JN, Maimon S, Gershoni-Baruch R. Anophthalmia-plus syndrome: A clinical report and review of the literature. Am J Med Genet. 2007; 143(A):64-68.
  2. 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.


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
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.