[MIM 263 750]

(Postaxial acrofacial dysostosis, Genee-Wiedemann syndrome, Wildervanck-Smith syndrome)

Rare. Autosomal recessive transmission of a mutation in the DHODH gene on 16q 22.

Association of

-        facial abnormalities similar to Treacher-Collins syndrome or Franceschetti syndrome (see this topic): bilateral malar and maxillary hypoplasia, cleft palate (90 %), microtia, coloboma of the eyelid

-        limb anomalies: absence of fingers (including the big toe), anomalies of the ulna.

Sometimes congenital cardiopathy.

Anesthetic implications:

difficult intubation. Management of a cleft palate. Difficult venous access. Gastro-esophageal reflux.

References : 

-        Stevenson GW, Hall SC, Bauer BS, Vicari FA, Seleny FL. 
Anaesthetic management of Miller's syndrome. 
Can J Anaesth 1991; 38: 1046-9.

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

Updated: December 2018