[MIM 616 482]

Acronym for Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans.

Very rare. Autosomal dominant transmission or de novo mutation of the FGFR3 gene (4p16.3). Association of severe achondroplasia with mental retardation (unusual in achondroplasia) and acanthosis nigricans.

Anesthetic implications: 

see achondroplasia

References : 

Updated: August 2021