Overview
Anophthalmia/microphthalmia-esophageal atresia syndrome (also called AEA syndrome or Anophthalmia-Esophageal-Genital syndrome) is a very rare condition that affects the eyes, the food pipe (esophagus), and sometimes the genitals. Children born with this syndrome may have eyes that are very small (microphthalmia) or completely absent (anophthalmia), and they often have a blockage or gap in the esophagus (esophageal atresia) that prevents food from passing normally from the mouth to the stomach. Some children also have differences in their genital or urinary organs. This syndrome is caused by changes (mutations) in the SOX2 gene, which plays a key role in the early development of the eyes, digestive tract, and reproductive system before birth. Because the esophageal blockage is present at birth, it is a medical emergency that requires surgery in the first days of life. Eye problems are usually permanent and require ongoing support from eye specialists and vision rehabilitation teams. There is no cure for this syndrome, but each problem can be treated individually. Surgery can repair the esophagus, and children can be fitted with prosthetic eyes for cosmetic and developmental reasons. With the right medical team and early support, many children can grow and develop well, though they will need lifelong specialist care.
Also known as:
Key symptoms:
Very small eyes (microphthalmia) or completely missing eyes (anophthalmia)Blocked or incomplete esophagus (esophageal atresia) present at birthDifficulty swallowing or inability to feed by mouth as a newbornAbnormal connection between the windpipe and esophagus (tracheoesophageal fistula) in some casesDifferences in genital development (such as undescended testicles or abnormal genitalia)Kidney or urinary tract differencesVision loss or complete blindnessFeeding difficulties requiring tube feeding or surgeryDevelopmental delays in some childrenHormonal differences related to the pituitary gland in some cases
Clinical phenotype terms (22)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Anophthalmia/microphthalmia-esophageal atresia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Anophthalmia/microphthalmia-esophageal atresia syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Anophthalmia/microphthalmia-esophageal atresia syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific SOX2 mutation does my child have, and what does that mean for their health outlook?,What is the full surgical plan for the esophageal repair, and what complications should I watch for afterward?,What vision rehabilitation services should we start, and how soon?,Should other family members be tested for SOX2 mutations, and what is the chance of this happening in a future pregnancy?,Are there any other organ systems we should screen — such as the kidneys, pituitary gland, or genitals?,What educational and developmental support should we put in place early on?,Are there any clinical trials or research studies we should know about for this condition?
Common questions about Anophthalmia/microphthalmia-esophageal atresia syndrome
What is Anophthalmia/microphthalmia-esophageal atresia syndrome?
Anophthalmia/microphthalmia-esophageal atresia syndrome (also called AEA syndrome or Anophthalmia-Esophageal-Genital syndrome) is a very rare condition that affects the eyes, the food pipe (esophagus), and sometimes the genitals. Children born with this syndrome may have eyes that are very small (microphthalmia) or completely absent (anophthalmia), and they often have a blockage or gap in the esophagus (esophageal atresia) that prevents food from passing normally from the mouth to the stomach. Some children also have differences in their genital or urinary organs. This syndrome is caused by c
How is Anophthalmia/microphthalmia-esophageal atresia syndrome inherited?
Anophthalmia/microphthalmia-esophageal atresia syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Anophthalmia/microphthalmia-esophageal atresia syndrome typically begin?
Typical onset of Anophthalmia/microphthalmia-esophageal atresia syndrome is neonatal. Age of onset can vary across affected individuals.