[MIM 300 000, 145 410]

(G syndrome,  BBB syndrome, Opitz-Frias syndrome, oculo-genito-laryngeal syndrome,  hypospadias-dysphagia syndrome)

Very rare. Two identified genetic causes: mutations of the MID1 gene on the chromosome Xp22 or autosomal dominant transmission of a microdeletion on chromosome 22q11.2.

Association of:

-        hypospadias (89%), bifid scrotum and anorectal malformation (27 %)

-        hypertelorism, widow's peak (pointed hairline) on the forehead

-        laryngeal cleft (see this topic), sometimes esophageal atresia,.

-        esophageal achalasia with gastroesophageal reflux,

But also: cleft lip or palate (50%), laryngeal anomalies (70%) (stridor), cerebral malformations (27%) (agenesis of the corpus callosum), congenital heart defects (30%)

Anesthetic implications:

difficult intubation. swallowing disorders, "full esophagus" situation : risk of inhalation. Abnormalities of the larynx. Increased risk of low termination of the dural sac ?

References : 

-        Bolsin SN, Gillbe C. Opitz-Frias syndrome. 
A case with potentially hazardous anaesthetic implications. 
Anaesthesia 1985; 40:1189-93.

-        Geneviève D, Captier G, Blanchet C. 
Syndromes avec fentes labiopalatines. 
In Syndromes dysmorphiques  coordinated by Lacombe D et Philip N, Collection Progrès en Pédiatrie,  Doin 2013, p 261-82.

-        Mislovic B. 
Successful use of ultrasound-guided caudal catheter in a child with a very low termination of dural sac and Opitz-GBBB syndrome : a case report. 
Pediatr Anesth 2015; 25: 1060-2

Updated: November 2018