[MIM 616 898]

(Monosomy 15q14, intellectual disability-congenital cardiopathy-cleft palate syndrome due to microdeletion 15q14)

Extremely rare. De novo mutation or autosomal dominant transmission of an interstitial deletion located within the 15q14 band, distal to the Prader-Willi/Angelman region and including the MEIS2 gene. 

Association of :

-        developmental delay,

-        short stature

-        facial dysmorphism: reduced bitemporal diameter, smooth philtrum, pointed chin and dysplastic ears.

-        cleft palate;

-        cardiac malformation (ASD, VSD) or epilepsy is found in patients with the largest deletions.

Anesthetic implications:

echocardiography, short stature, cleft palate

References : 

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Updated: February 2024