Learn About Anophthalmia Plus Syndrome

What is the definition of 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.
Save information for later
Sign Up
What are the alternative names for Anophthalmia Plus Syndrome?
  • Anophthalmia plus syndrome
  • 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
Who are the top Anophthalmia Plus Syndrome Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Anophthalmia Plus Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Anophthalmia Plus Syndrome?
Tired of the same old research?
Check Latest Advances