Anophthalmia Plus Syndrome Symptoms, Doctors, Treatments, Advances & More

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.

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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?

Nicola K. Ragge

Elite

Highly rated in

conditions

Birmingham Women's And Children's NHS Foundation Trust

London School Of Hygiene And Tropical Medicine,

London, ENG, GB

Nicola Ragge practices in London, United Kingdom. Ragge is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. She is also highly rated in 11 other conditions, according to our data. Her top areas of expertise are Anophthalmia Plus Syndrome, Microphthalmia, Coloboma, and Micropthalmia Associated with Colobomatous Cyst.

Nicolas Chassaing

Elite

Highly rated in

conditions

CHU Purpan

Toulouse, FR

Nicolas Chassaing practices in Toulouse, France. Chassaing is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. He is also highly rated in 21 other conditions, according to our data. His top areas of expertise are Microphthalmia, Anophthalmia Plus Syndrome, Coloboma, and Micropthalmia Associated with Colobomatous Cyst.

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Holly Bridge

Elite

Highly rated in

conditions

Wellcome Centre For Integrative Neuroimaging

Oxford, GB

Holly Bridge practices in Oxford, United Kingdom. Bridge is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. They are also highly rated in 6 other conditions, according to our data. Their top areas of expertise are Anophthalmia Plus Syndrome, Anton Syndrome, Opsoclonus-Myoclonus Syndrome, and Agnosia.

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What are the latest Anophthalmia Plus Syndrome Clinical Trials?

Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)

Enrollment Status: Recruiting

Publish Date: January 09, 2023

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. Several genes have been linked to coloboma, but the cause of most cases is hard to find. Researchers want to study the genes of people who have coloboma and genes from their close, unaffected relative...

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Who are the sources who wrote this article ?

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

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