[MIM 244 300]

Rare. Probable autosomal recessive transmission.

Association of:

-        cleft lip palate with a bulbar nose tip

-        congenital heart disease

-        intestinal malrotation

-        growth delay with severe intellectual deficit.

There is often associated ocular abnormalities such as microphthalmia, coloboma.

Anesthetic implications:

echocardiography

References : 

Update: February 2019