[MIM 615 485]

Extremely rare. De novo loss-of-function mutation (or autosomal dominant inheritance) of the ASXL3 gene (18q12.1).

Developmental disorder characterized by:

-        delayed psychomotor development, sometimes autistic-like behavior

-        severe intellectual deficit with poor or absent speech

-        hypotonia

-        feeding difficulties

-        post-natal growth retardation

-        facial dysmorphism: prominent forehead, thin, arched eyebrows (sometimes synophrys), hypertelorism, downslanting palpebral fissures, long, tubular nose with a broad tip and prominent bridge, wide mouth and fully splayed lower lip, low-set ears, narrow chin, arched palate

-        ulnar deviation of the hands

-        joint laxity, pectus excavatum or carinatum

Similar to Bohring-Opitz syndrome (see this term)

Anesthetic implications:

intellectual deficit, psychomotor retardation

References : 

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Updated: December 2023