anophthalmia/microphthalmia-esophageal atresia syndrome
Findings
No curated finding names anophthalmia/microphthalmia-esophageal atresia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Definition from the Mondo Disease Ontology (MONDO:0008799), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Optic nerve aplasiaHPOHP:0012521
- 1 of 1 reported patient
- AnophthalmiaHPOHP:0000528
- 9 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Esophageal atresiaHPOHP:0002032
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- 3 of 9 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Abnormal vertebral morphologyHPOHP:0003468
- Occasional (5% to 29% of cases)
- Growth delayHPOHP:0001510
- Occasional (5% to 29% of cases)
- HemivertebraeHPOHP:0002937
- Occasional (5% to 29% of cases)
- HoloprosencephalyHPOHP:0001360
- Occasional (5% to 29% of cases)
- HydrocephalusHPOHP:0000238
- Occasional (5% to 29% of cases)
- Hypoplasia of penisHPOHP:0008736
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SOX2HGNC:11195
- Definitive · Illumina · Autosomal dominant · 2019
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
3 names
Resolves to: anophthalmia/microphthalmia-esophageal atresia syndrome
- Also called
- MCOPS3microphthalmia, syndromic type 3syndromic microphthalmia type 3