Anophthalmia/microphthalmia-esophageal atresia syndrome
ORPHA:77298· ICD-10 Q87.8
Definition
A syndrome that 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.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal