[MIM 257 920]

see also 3MC syndrome

Very rare. Autosomal recessive transmission. Association of multiple congenital anomalies. Facial anomalies are typical: hypertelorism, cleft lip/palate, palpebral ptosis and malar hypoplasia, micrognathia and buck teeth. Hearing problems, physical development delay (weight and size), scoliosis.

Sometimes: heart defect, omphalocele; micropenis, renal aplasia, anomalies of the sacral region ( sacrococcygeal dimple, skin appendages).

Anesthetic implications:

possible difficult intubation; exclude heart defect; difficulties for performing a neuraxial block (sacral ultrasound, thoracolumbar scoliosis)

References : 

• Kiernan F, Crowe S. 
  Malpuech syndrome : implications for anesthetic management. 
  Pediatr Anesth 2010 ; 20 : 370-1.
• 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: February 2017