Extremely rare: described in a Dutch family. Transmission of a deletion/duplication on Xq28. This mutation causes a malformative syndrome which associating:

-        bilateral congenital paralysis of the vocal cords in adduction with respiratory distress at birth and need for a tracheotomy; it is probably caused by a dysfunction of the vagus nerve nucleus in the brainstem

-        an external ear malformation: hypoplasia of the helix

-        a middle ear anomaly: distorted maleus causing a conduction hearing loss that later becomes sensorineural

-        a mild facial dysmorphism: slight facial asymmetry, synophrys, mild retrognathia, downslanting palpebral fissures

-        progressive atrophy of the muscles of the shoulder resulting in winging of the scapula.

This syndrome could be the result of a neurocristopathy manifested in several branchial arches.

Anesthetic implications:

congenital paralysis of the vocal cords, tracheotomy; deaf patient

References : 

-         Hoeve HJL, Brooks AS, Smit LS. 
JS-X syndrome : a multiple congenital malformation with vocal cord paralysis, ear deformity, hearing loss, shoulder musculature underdevelopment, and X-linked inheritance. 
Int J Pediatr Otorhinolaryngol 2015; 79: 1164-70.

Updated: August 2015