[MIM 301 026]

(naso-digito-acoustic syndrome)

Incidence < 1.106.  X-linked transmission of a mutation of the GPC4 gene (Xq26.2).

Combination of:

-        facial dysmorphism: hypertelorism, prominent forehead, wide and high nasal root, short columella nasi, flat midface, underdeveloped maxilla, prominent vermilion of the upper lip (Cupid's bow appearance)

-        slight to severe congenital sensorineural deafness

-        skeletal anomalies: short distal phalanges, broad thumbs/hallux, broad and rounded epiphyses.

Additional signs include: pulmonary valvular stenosis, hoarse voice (edema of the vocal cords and omega-shaped epiglottis) and sometimes renal agenesis.

Anesthetic implications:

echocardiography, check renal function, risk of difficult mask ventilation or intubation, hearing disorders

References :

-        Amor DJ, Dahl H-HM, Bahlo M, Bankier A.
Keipert syndrome (nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-28.
Am J Med Genet 2007 ; 143A : 2236-41.

Updated: July 2019