Anophthalmia Plus Syndrome Overview

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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.
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?
Elite in Anophthalmia Plus Syndrome
Nicola K. Ragge
Elite in Anophthalmia Plus Syndrome
Nicola K. Ragge
Birmingham, ENG, GB 

Nicola Ragge practices in Birmingham, United Kingdom. Ms. Ragge is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. Her top areas of expertise are Microphthalmia, Anophthalmia Plus Syndrome, Coloboma, and Micropthalmia Associated with Colobomatous Cyst.

Elite in Anophthalmia Plus Syndrome
Nicolas Chassaing
Elite in Anophthalmia Plus Syndrome
Nicolas Chassaing

CHU Purpan

Toulouse, FR 

Nicolas Chassaing practices in Toulouse, France. Mr. Chassaing is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. His top areas of expertise are Microphthalmia, Anophthalmia Plus Syndrome, Coloboma, Micropthalmia Associated with Colobomatous Cyst, and Pancreas Transplant.

 
 
 
 
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Elite in Anophthalmia Plus Syndrome
Holly Bridge
Elite in Anophthalmia Plus Syndrome
Holly Bridge
Oxford, ENG, GB 

Holly Bridge practices in Oxford, United Kingdom. Bridge is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. Their top areas of expertise are Anophthalmia Plus Syndrome, Anton Syndrome, Charles Bonnet Syndrome, and Opsoclonus-Myoclonus Syndrome.

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What are the latest Anophthalmia Plus Syndrome Clinical Trials?
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
Enrollment Status: Recruiting
Publish Date: October 02, 2025

Background: \- Uveal coloboma is a condition where the eye does not form normally. It occurs early in the fetus s development during pregnancy. It can lead to different kinds of eye problems, including blindness. Uveal coloboma is part of a spectrum of developmental eye conditions that include anophthalmia and microphthalmia, typically referred to as MAC. Several genes have been linked to MAC, but the cause o...

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Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions
Enrollment Status: Recruiting
Publish Date: October 02, 2025

Objective: The objective of this study is to identify genetic causes of inherited eye conditions through whole exome or whole genome sequencing (referred to as exome sequencing and genome sequencing in the remainder of the document). This includes identifying mutations in known genes or novel genes for recognized conditions, as well as identifying mutations in novel genes for previously uncharacterized genet...

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