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Disease Profile
Syndromic microphthalmia, type 3
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.
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Age of onset
Neonatal
ICD-10
Q87.8
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
MCOPS3; Microphthalmia and esophageal atresia syndrome; Anophthalmia clinical with associated anomalies;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Endocrine Diseases;
Summary
Syndromic microphthalmia, type 3 is a rare condition that affects the eyes and other parts of the body. Babies with this condition are generally born without eyeballs (anophthalmia) or with eyes that are unusually small (microphthalmia). Both of these abnormalities can be associated with severe vision loss. Other signs and symptoms of syndromic microphthalmia, type 3 may include
Symptoms
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 |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Anophthalmia |
Absence of eyeballs
Failure of development of eyeball
Missing eyeball
No eyeball
[ more ] |
0000528 |
Esophageal atresia |
Birth defect in which part of esophagus did not develop
|
0002032 |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Tracheoesophageal fistula | 0002575 | |
30%-79% of people have these symptoms | ||
Agenesis of |
0001274 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
5%-29% of people have these symptoms | ||
11 pairs of ribs | 0000878 | |
Global |
0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hemivertebrae |
Missing part of vertebrae
|
0002937 |
Holoprosencephaly | 0001360 | |
Too much cerebrospinal fluid in the brain
|
0000238 | |
Hypoplasia of penis |
Underdeveloped penis
|
0008736 |
Hypospadias | 0000047 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Iris coloboma |
Cat eye
|
0000612 |
Patent ductus arteriosus | 0001643 | |
Sclerocornea |
Hardening of skin and connective tissue
|
0000647 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
Percent of people who have these symptoms is not available through HPO | ||
Anterior pituitary hypoplasia |
Underdeveloped pituitary gland
|
0010627 |
0000006 | ||
Butterfly vertebrae | 0003316 | |
Coloboma |
Notched pupil
|
0000589 |
Frontal bossing | 0002007 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypogonadotropic |
0000044 | |
Hypoplasia of the corpus callosum |
Underdevelopment of part of brain called corpus callosum
|
0002079 |
Hypothalamic hamartoma | 0002444 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Missing ribs |
Absent ribs
Decreased rib number
[ more ] |
0000921 |
Muscular hypotonia |
Low or weak muscle tone
|
0001252 |
Optic nerve hypoplasia | 0000609 | |
Postnatal growth retardation |
Growth delay as children
|
0008897 |
Rib fusion |
Fused ribs
|
0000902 |
Sensorineural hearing impairment | 0000407 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Spastic diplegia | 0001264 | |
Spastic tetraplegia | 0002510 | |
Specific learning disability | 0001328 | |
Supernumerary ribs |
Extra ribs
|
0005815 |
Vertebral fusion |
Spinal fusion
|
0002948 |
Vertebral hypoplasia |
Underdeveloped vertebrae
|
0008417 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Organizations
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.
Organizations Supporting this Disease
-
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
Toll-free: 800-580-4226
Telephone: 215-456-8722
E-mail: ican@anophthalmia.org
Website: https://www.anophthalmia.org -
National Federation of the Blind
200 East Wells Street at Jernigan Place
Baltimore, MD 21230
Telephone: 410-659-9314
Fax: 410-685-5653
E-mail: pmaurer@nfb.org
Website: https://www.nfb.org/
Organizations Providing General Support
-
American Foundation for the Blind
1401 South Clark Street
Suite 730
Arlington, VA 22202
Toll-free: 800-232-5463
Telephone: 212-502-7600
E-mail: info@aph.org
Website: https://www.afb.org/
Learn more
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.
Where to Start
- Genetics Home Reference (GHR) contains information on Syndromic microphthalmia, type 3. This website is maintained by the National Library of Medicine.
In-Depth Information
- 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.
- 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 Syndromic microphthalmia, type 3. Click on the link to view a sample search on this topic.
References
- MICROPHTHALMIA, SYNDROMIC 3. OMIM. August 2015; https://www.omim.org/entry/206900.
- SOX2 anophthalmia syndrome. Genetics Home Reference. March 2009; https://ghr.nlm.nih.gov/condition/sox2-anophthalmia-syndrome.
- Kathleen A Williamson, PhD and David R FitzPatrick, MD, FRCP(EDIN). SOX2-Related Eye Disorders. GeneReviews. July 2014; https://www.ncbi.nlm.nih.gov/books/NBK1300.