GAPO, syndrome

Very rare. Acronym for Growth retardation, Alopecia, Pseudoanodontia and Optic atrophy.

Uni- or bilateral alopecia with optic atrophy, sometimes glaucoma. The teeth are impacted in the gums, which gives an aspect of anodontia. Maxillary hypoplasia with high and bossing forehead. Short stature. Mental retardation. Frequent obstructive sleep apnea.

In some cases: dilated cardiomyopathy and/or pulmonary arterial hypertension.

Some cases where a very important vascular malformation at the level of the scalp is  associated with hypoplasia or agenesis of a jugular vein.


Anesthetic implications: 

preoperative cardiac ultrasound; obstructive sleep apnea; risk of difficult intubation; echoguided central venous access.


References : 

-        Castrillon-Oberndorfer G, Seeberger R, Bacon C, Engel M, Ebinger F, Thiele OC.
GAPO syndrome associated with craniofacial vascular malformation. 
Am J Genetics Part A; 2009; 152A: 225-7

Updated: April 2019