[MIM 201 170]

Very rare. Heterozygous mutations of the SF3B4 gene.  Polymalformative syndrome with:

-        mandibulofacial dysostosis: severe microretrognathism (cause of death by respiratory failure), cleft palate

-        and limb anomalies: hypoplasia of the shoulders and the pelvis, phocomelia with humeral hypoplasia, radial and ulnar aplasia, complete absence of long bones of the lower limbs, and various anomalies of the hands, in particular pre-axial reduction (thumb agenesis).

Complex anomalies of other organs can be associated:

-        especially the central nervous system: agenesis of corpus callosum, stenosis of the aqueduct of Sylvius

-        the genital tract: unicornuate uterus

-        the heart: malformations

-        lungs: absence of lobulation

These children present also with a facial dysmorphism and malformations of the ear.

The prognosis is very bad: death in utero or shortly after birth

Anesthetic implications:

References :

Updated: March 2017