Anophthalmia/microphthalmia-esophageal atresia syndrome

Beschreibung

Anophthalmia/microphthalmia-esophageal atresia (AEG) syndrome is a rare disorder that is characterised by the abnormal development of the eyes and other parts of the body, including the tube that carries food from the mouth to the stomach (esophagus).

People who have AEG syndrome are usually born without one or both eyes (anophthalmia), although some individuals have underdeveloped and abnormally small eyes (microphthalmia). People who have anophthalmia have no vision in the affected eye, but people who have microphthalmia may or may not have significant vision loss. 

Affected individuals who have some remaining eye tissue can have additional eye abnormalities. Some people may be missing pieces of tissue in the structures that form the eye (coloboma), or the nerves that carry signals between the eyes and the brain may be underdeveloped (optic nerve hypoplasia). The presence of other eye problems can worsen an affected person's vision.

Some people with AEG syndrome are born with a blocked esophagus (esophageal atresia), which is often accompanied by an abnormal connection between the windpipe (trachea) and the esophagus (tracheoesophageal fistula). Additional features of AEG syndrome can include brain abnormalities, slow growth, delayed development of motor skills (such as walking), and intellectual disabilities. Affected individuals may also have genital abnormalities, which can include undescended testes (cryptorchidism) and an unusually small penis.

Inheritance patterns

The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.

Related genes

• SOX2

Other names

AEG syndrome

Anophthalmia-esophageal-genital syndrome

MCOPS3

SOX2 anophthalmia syndrome

SOX2 disorder

SOX2 syndrome

SOX2-related eye disorders

Syndromic microphthalmia type 3