Very rare. Mutation of the EZH2 or the NSD1 gene. Large size at birth with very rapid growth in size during infancy (advanced bone age) and dysmorphic syndrome: broad forehead, flat occiput, large ears, hypertelorism, micrognathia, small mouth opening, short neck, limb anomalies (broad thumbs, clinodactyly). Sometimes: heart defect, cleft palate, fusion of C2-C3 vertebrae.

Anesthetic implications:

risk of difficult intubation; echocardiography

References : 

-        Celebioglu B, Yener F. 
Anaesthesia for open-heart surgery in a patient with Weaver's syndrome. 
Europ J Anaesthesiol 2002; 9: 897-8.

-         Turner DR, Downing JW. 
Anaesthetic problems associated with Weaver’s syndrome. 
Br J Anaesth 1985; 57: 1260-3.

-        Crawford MW, Rohan D. 
The upper airway in Weaver syndrome. 
Pediatr Anesth 2005; 15: 893-6.

Updated: September 2018