[MIM 616 268]

Autosomal dominant transmission of a mutation of the KAT6A gene (8p11.21) coding for lysine acetyltransferase. 

Clinical presentation :

-         delayed intellectual development, delayed or no language acquisition

-         facial dysmorphism: micro- and retrognathia, downslanting palpebral fissures, epicanthus, low-set ears, wide base of nose, sometimes strabismus

-         single palmar crease

-         cardiac malformation (> 50 %): ASD, VSD, tetralogy of Fallot, ductus arteriosus

-         gastrointestinal problems 

Anesthetic implications: 

echocardiography, risk of difficult intubation

References :

-        Kataoka K, Luginbuehl I.
Clinical features and airway management experience in an infant with Arboleda-Tham syndrome.
Can J Anesth 2025 ; doi.org/10.1007/s12630-025-02966-8

Updated: May 2025