(maxillo-nasal dysplasia)

Very rare. Usually sporadic but cases of autosomal recessive or dominant transmission with variable penetrance have been described. Anomaly of the maxillonasal development leading to hypoplastic  dysraphism. For some patients, the clinical picture is similar to the anomalies caused by  in utero exposure to phenytoin or oral anticoagulants. Could be a variant of chondrodysplasia punctata.

Flattened face  with  very short, flat or absent nose (no nasal crest). Underdeveloped upper jaw, sometimes cleft palate. Sometimes also:  kyphoscoliosis secondary to vertebral malformation(s), hypoplasia of the distal phalanges.

Anesthetic implications: 

difficult intubation if associated with a cleft palate.

References:

Updated: November 2019