(cerebrofacioarticular syndrome)

Autosomal recessive transmission.

Type 1 [MIM 601 390]: mutation of DCHS1 gene (11p15.4)

Type 2 [MIM 615 546]: mutation of FAT4 gene (4q28)

Association of:

-        facial anomalies: ptosis, epi- or telecantus, macrostomia with reverse W-shaped upper lip and everted lower lip , malformed ears, wide nasal root

-        abnormalities of the extremities: camptodactyly, interdigital webs, genu recurvatum

-        hearing disorders from malformative origin: microtia, atresia of the external auditory canal.

-        intellectual deficit

-        MRI: periventricular nodular heterotopia

-        sometimes: renal hypoplasia

Anesthetic implications:

check renal function, intellectual deficit

References :        

Updated: January 2017