[MIM 206 900]

(Rogers syndrome, MCOPS3, syndromic microphthalmia type 3)

Acronym for 'Anophthalmia-Esophageal-Genital'. 

Extremely rare. Sporadic cases or autosomal dominant mutations of the SOX2 gene (3q26.3-q27). 

Clinical presentation:

-         uni - or bilateral microphthalmia (or a clinical anophthalmia) 

-         esophageal atresia with or without a tracheal fistula

-         malformations of the genitalia.

Often: cerebral malformations including a hypoplastic anterior pituitary with deficiency in growth hormone and gonadotropic hormones.

 Anesthetic implications: 

cerebral malformations, esophageal atresia (see this term)

References : 

• Crétolle C, Amiel J. 
  Syndromes avec anomalie digestive, 
  In  Progrès en Pédiatrie : syndromes dysmorphiques,  édité par  Lacombe D et Philip N, 2013, p151-63

Updated December 2019