[MIM 184 705]

(holoprosencephaly - renal cardiac radial anomalies)

Rare. Autosomal dominant transmission with variable expression.

Association of:

-        holoprosencephaly (see this term); sometimes absence of the nose (see arrhinia)

-        cleft lip and/or palate

-        heart defects

-        radial limb anomalies: absence of thumbs, or even phocomelia

-        renal malformations

-        absence of gallbladder.

Sometimes: coloboma of the iris or of the retina, microphthalmia; vertebral anomalies

Anesthetic implications:

full evaluation of the malformations; risk of difficult intubation; difficult peripheral venous access in case of phocomelia.

References : 

• Stevens CA. 
  Steinfeld syndrome : further delineation. 
  Am J Med Genet Part A 152A : 1789-92.

Updated: September 2018