/anophthalmia/microphthalmia-esophageal atresia syndrome

anophthalmia/microphthalmia-esophageal atresia syndrome

Rare Disease

MONDO:0008799

Also Known As

MCOPS3anophthalmia/microphthalmia-esophageal atresia syndromemicrophthalmia, syndromic type 3syndromic microphthalmia type 3Aeg syndromeSOX2 anophthalmia syndromeSOX2-related eye disordersanophthalmia clinical with associated anomaliesanophthalmia esophageal genital syndromeanophthalmia microphthalmia esophageal atresiaanophthalmia, clinical, with associated anomaliesanophthalmia-esophageal-genital syndromemicrophthalmia and esophageal atresia syndromemicrophthalmia, syndromic 3optic nerve hypoplasia and abnormalities of the central nervous systemsyndromic microphthalmia, type 3

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.