Anophthalmia plus syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Fryns microphthalmia syndrome; Fryns anophthalmia syndrome; Microphthalmia with facial clefting;
Congenital and Genetic Diseases
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
Absence of eyeballs
Failure of development of eyeball
[ more ]
|30%-79% of people have these symptoms|
|Abnormal nasal morphology||
Abnormal of nasal shape
Abnormal of shape of nose
[ more ]
Right and left cleft lip and palate
Blockage of the rear opening of the nasal cavity
Obstruction of the rear opening of the nasal cavity
[ more ]
Cleft of the face
Widely spaced eyes
[ more ]
|Low-set, posteriorly rotated ears||0000368|
|5%-29% of people have these symptoms|
|Aplasia/Hypoplasia of the earlobes||
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ]
Narrow opening between the eyelids
|Deviation of finger||
Atypical position of finger
Finger pointing in a different direction than usual
[ more ]
[ more ]
|Vertebral segmentation defect||0003422|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the ear||0000598|
|Abnormality of the
|Abnormality of the vertebral column||
Abnormal vertebral column
Abnormality of the spine
[ more ]
Abnormally small eyeball
|Neural tube defect||0045005|
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
International Children's Anophthalmia Network (ICAN)
c/o Center for Developmental Medicine and Genetics
5501 Old York Road Genetics
West Philadelphia, PA 19141
MACS The Micro and Anophthalmic Children's Society
MACS (Registered Office)
PO Box 92
Telephone: 0800 169 8088
National Alliance for Eye and Vision Research (NAEVR)
5515 Security Lane
Rockville, MD 20852
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- 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.
- 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 Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- 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.
- 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; 143(A):64-68.
- Wiltshire, Esko; Moore, Mark; Casey, Theresa; Smith, Greg; Smith, Scott; Thompson, Elizabeth. Fryns ‘Anophthalmia-Plus’ syndrome associated with developmental regression. Clinical Dysmorphology. January 2003; 12(1):41-43.