[MIM 244 450]

Very rare. Autosomal recessive transmission of a heterozygous mutation of the UBE3B (ubiquitin protein ligase E38) (12q24.11).

Association of:

-        postnatal microcephaly with mongoloid slanting palpebral fissure

-        respiratory and feeding problems in the neonatal period

-        ocular anomalies: microcornea, myopia, optic atrophy, strabismus, blepharophimosis

-        severe psychomotor retardation

-        micrognathia, small mouth opening, ogival palate, cleft palate

-        ear anomalies (small, with or without preauricular appendages), hearing disorders

-        stridor, laryngomalacia, obstructive sleep apnea requiring early intervention

-        post-natal growth retardation

-        congenital cardiac anomaly (25 %)

-        long, thin fingers, club feet

-        MRI: hypoplasia or agenesis of corpus callosum, ventriculomegaly, small or ectopic pituitary gland, Chiari type 1 malformation

Anesthetic implications:

difficult intubation.

References : 

-        Galarretaa CI, Wigbya KM, Jonesa MC.

       Further phenotypic characterization of Kaufman oculocerebrofacial syndrome: report of five new cases and literature review.
Clinical Dysmorphology 2019 ; 28:175-83

Updated: November 2023