[MIM 617 190]

Extremely rare. Autosomal dominant transmission of a mutation of the ASXL2 gene (2p23.3). 

Developmental disorder characterized by:

-        delayed psychomotor development

-        intellectual deficit of variable severity

-        hypotonia

-        facial dysmorphism: macrocephaly, glabellar angioma, hypertelorism, epicanthus, bulging eyes, small mouth

-        deep palmar and plantar folds

-        sometimes: cardiac malformation (ASD), convulsions, osteopenia

Anesthetic implications:

echocardiography, risk of difficult intubation

References : 

-        Ka Lun Hoa S, Sze Wing Cheng S, Hua Tse Chengc T, Leunga L-T, Kai Yee Lamc E, Tsz M,  Moka S, Fai Man Loa I, Ho-Lukb H-M.
Extending the phenotype of Shashi–Pena syndrome: a case report and review of literature.
Clinical Dysmorphology 2023 ; 32:139-45

Updated: December 2023