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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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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.
- 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.
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On this page
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view an article providing an overview of anophthalmia and microphthalmia in general.
- The National Eye Institute (NEI) provides more information on anophthalmia and microphthalmia in general. The NEI was created to conduct research, distribute health information, and support other programs that protect and prolong the vision of Americans. Click on the above link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Anophthalmia plus syndrome. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Anophthalmia plus syndrome. Click on the link to go to OMIM and review these resources.