Rare. Two types have been identified:

-        type 1 [MIM 166 780] or Fara-Chlupackova syndrome: autosomal dominant transmission of a more or less severe deletion on 8q13.3 where the EYA1 gene is located (adjacent genes)

-        type 2 [MIM 167 411]: autosomal recessive transmission of a mutation of the PAX1 gene (20p11.22)

Association of:

-        auricular anomalies: cupped low-set ears with hypoplasia of the lobes, tragus and antitragus; preauricular fistulas and/or cysts, anomalies of the branchial arches, hypoacousia or deafness

-        facial dysmorphism: triangular face with a wide forehead and narrow nose and mandibulae

-        skeletal anomalies: vertebral anomalies, elongated neck with hypoplastic cervical muscles, low-set clavicles, low-set winged scapulae, sloping shoulders, pectus excavatum.

-        mild intellectual disability

-        frequent short stature

-        in case of type 2, 'T' type immunodeficiency linked to thymic dysfunction, causing repeated infections

Anesthetic implications:

echoguided central venous access, antibioprophylaxis, check the absence of local vertebral anomalies before any neuraxial block; risk of difficult intubation due to the branchial arches anomalies

References : 

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Updated: October 2022