Anophthalmia/microphthalmia-esophageal atresia syndrome
Anophthalmia/microphthalmia-esophageal atresia syndrome
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.
Also known as anophthalmia/microphthalmia-esophageal atresia syndrome, MCOPS3, microphthalmia, syndromic type 3, syndromic microphthalmia type 3 — per MONDO