[MIM 609 460]

(megacolon-microcephaly syndrome)

Not to be confused with Shprintzen-Goldberg syndrome, which is a marfanoid syndrome !

Autosomal recessive transmission of a mutation of the KIAA1279 or KIFBP gene (10q21.3-q22.1). Malformative syndrome phenotypically similar to Mowat-Wilson syndrome but its genetic origin is different.

Association of:

-        mild to severe mental retardation: poor or absent speech, hypotonia

-        microcephaly: polymicrogyria, gyration anomalies secondary to a neural crest migration disorder

-        facial dysmorphism: hypertelorism, telecanthus, synophris, cleft palate (submucosal), maxillary hypoplasia, short philtrum, short neck, low set ears

-        widely spaced nipples

-        strong predisposition to Hirchsprung's disease (> 5 %)

Sometimes: coloboma, megalocornea and urogenital anomalies.

Anesthetic implications: 

risk of difficult intubation

References : 

-         

Updated: April 2023