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?
Elite
Highly rated in
5
conditions

Al Shifa Trust Eye Hospital

Rawalpindi, PB, PK 

Farrah Islam is in Rawalpindi, Pakistan. Islam is rated as an Elite expert by MediFind in the treatment of Anophthalmia Plus Syndrome. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Anophthalmia Plus Syndrome, Coloboma, Microphthalmia, and Coloboma of Iris.

Elite
Highly rated in
25
conditions

Hôpital Purpan

Toulouse, FR 

Nicolas Chassaing is 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 25 other conditions, according to our data. His top areas of expertise are Anophthalmia Plus Syndrome, Microphthalmia, Micropthalmia Associated with Colobomatous Cyst, and Coloboma of Iris.

 
 
 
 
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Elite
Highly rated in
6
conditions

University Of Oxford

Oxford, ENG, GB 

Holly Bridge is 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 Anton Syndrome, Anophthalmia Plus Syndrome, Amaurosis Fugax, and Agnosia.

What are the latest Anophthalmia Plus Syndrome Clinical Trials?
Comparative Motility of Retro-scleral and Intrascleral Orbital Implants After Evisceration
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Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma ( MAC)
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?
Therapeutic Strategies in 103 Children with Congenital Microphthalmos.
Transient Hyperinsulinemic Hypoglycemia Linked to PAX6 Mutation.
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Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.