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Syndromic Microphthalmia, Type 3

Last updated April 20, 2018

Approved by: Krish Tangella MD, MBA, FCAP

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).


What are the other Names for this Condition? (Also known as/Synonyms)

  • Anophthalmia Esophageal Genital Syndrome
  • Microphthalmia and Esophageal Atresia Syndrome
  • SOX2 Anophthalmia Syndrome

What is Syndromic Microphthalmia, Type 3? (Definition/Background Information)

  • 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 seizures, brain malformations, esophageal atresia, delayed motor development, learning disabilities, and sensorineural hearing loss
  • The condition is caused by changes (mutations) in the SOX2 gene and is inherited in an autosomal dominant manner
  • Treatment is based on the signs and symptoms present in each person

(Source: Syndromic Microphthalmia, Type 3; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Syndromic Microphthalmia, Type 3? (Age and Sex Distribution)

  • Syndromic Microphthalmia, Type 3 is a rare congenital disorder. The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Syndromic Microphthalmia, Type 3? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Syndromic Microphthalmia, Type 3 can be inherited
  • Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Syndromic Microphthalmia, Type 3? (Etiology)

(Source: Syndromic Microphthalmia, Type 3; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Syndromic Microphthalmia, Type 3?

The signs and symptoms of Syndromic Microphthalmia, Type 3 may include:

  • Anterior pituitary hypoplasia
  • Butterfly vertebrae
  • Coloboma
  • Frontal bossing
  • Generalized hypotonia
  • Hypogonadotrophic hypogonadism
  • Hypoplasia of the corpus callosum
  • Hypothalamic hamartoma
  • Microcephaly
  • Micropenis
  • Missing ribs
  • Optic nerve hypoplasia
  • Postnatal growth retardation
  • Rib fusion
  • Sensorineural hearing impairment
  • Spastic diplegia
  • Spastic tetraplegia
  • Supernumerary ribs
  • Vertebral fusion
  • Vertebral hypoplasia

Very frequently present symptoms in 80-99% of the cases:

  • Anophthalmia
  • Esophageal atresia
  • Microphthalmia
  • Tracheoesophageal fistula

Occasionally present symptoms in 5-29% of the cases:

  • 11 pairs of ribs
  • Growth delay
  • Hemivertebrae
  • Holoprosencephaly
  • Hydrocephalus
  • Hypoplasia of penis
  • Hypospadias
  • Intellectual disability
  • Iris coloboma
  • Patent ductus arteriosus
  • Sclerocornea
  • Ventricular septal defect

(Source: Syndromic Microphthalmia, Type 3; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Syndromic Microphthalmia, Type 3 Diagnosed?

Syndromic Microphthalmia, Type 3 is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Syndromic Microphthalmia, Type 3?

The complications of Syndromic Microphthalmia, Type 3 may include:

  • Severe physical and mental abnormalities
  • Spinal deformities
  • Hearing and vision loss

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Syndromic Microphthalmia, Type 3 Treated?

There is no cure for Syndromic Microphthalmia, Type 3, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Syndromic Microphthalmia, Type 3 be Prevented?

Currently, Syndromic Microphthalmia, Type 3 may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Syndromic Microphthalmia, Type 3? (Outcomes/Resolutions)

  • The prognosis of Syndromic Microphthalmia, Type 3 is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Syndromic Microphthalmia, Type 3:

Syndromic Microphthalmia, Type 3 is also known by the following names:

  • AEG Syndrome
  • Anophthalmia Clinical with Associated Anomalies
  • Anophthalmia Microphthalmia Esophageal Atresia
  • MCOPS3
  • SOX2-Related Eye Disorders

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 20, 2018
Last updated: April 20, 2018