Anophthalmia plus syndrome

How is anophthalmia plus syndrome diagnosed?

A review of the available medical literature does not currently yield information about specific diagnostic criteria for anophthalmia plus syndrome (APS). Because APS is so rarely reported, specific diagnostic criteria may not exist. Anophthalmia and/or microphthalmia with oral-facial clefting occurs in a number of known syndromes; however, the other known syndromes typically have specific other features (such as limb abnormalities, deafness or other organ anomalies). A diagnosis of APS may be considered when an individual has the signs and symptoms most commonly reported in affected individuals, but other known syndromes with overlapping features have been ruled out.

Last updated on 05-01-20

In-Depth Information

GeneReviews- Anophthalmia/Microphthalmia Overview

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.

Last updated on 04-27-20

Name: National Alliance for Eye and Vision Research (NAEVR) 1801 Rockville Pike, Suite 400
Rockville, MD, 20852, United States
Phone: 240-221-2905 Fax : 240-221-0370 Email: Url:
Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: Url:
Name: International Children's Anophthalmia Network (ICAN) c/o Center for Developmental Medicine and Genetics 5501 Old York Road Genetics
Levy 2
West Philadelphia, PA, 19141 , United States
Phone: 215-456-8722 Toll Free: 800-580-4226 Email: Url:
Name: ACPA Family Services 1504 East Franklin Street, Suite 102
Chapel Hill, NC, 27514-2820, United States
Phone: +1-919-933-9044 Fax : +1-919-933-9604 Email: Url:
Name: MACS - The Micro and Anophthalmic Children's Society MACS (Registered Office) PO Box 92
Holyhead LL65 9AW
United Kingdom
Phone: 0800 169 8088 Email: Url:

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