Living with Anophthalmia/microphthalmia-esophageal atresia syndrome
A rare genetic condition affecting how the eyes and food pipe form, sometimes with brain and growth differences.
Understanding Anophthalmia/microphthalmia-esophageal atresia syndrome
People are usually born without one or both eyes (anophthalmia), or with very small eyes (microphthalmia). Some are born with a blocked esophagus, the tube from the mouth to the stomach. Other features can include brain differences, slow growth, delayed motor skills like walking, intellectual disability, and genital differences. It is seen during pregnancy and in newborns.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing eyeballs (anophthalmia)
- Very small eyes (microphthalmia)
- Blocked food pipe (esophageal atresia)
- Abnormal connection between windpipe and food pipe
- Hearing impairment
- Undescended testes (cryptorchidism)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in SOX2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Pituitary Network Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Organization of Parents of Blind Children and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the SOX2 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can be enough to cause it.
Also known as: aeg - anophthalmia-esophageal-genital syndrome; aeg syndrome; anophthalmia-esophageal-genital syndrome; mcops3; microphthalmia and esophageal atresia syndrome; microphthalmia, syndromic type 3
Patient organizations
- National Organization of Parents of Blind ChildrenAnophthalmia/microphthalmia-esophageal atresia syndrome · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Anophthalmia/microphthalmia-esophageal atresia syndrome.
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