[MIM 617 557]

(YY1 Intellectual Disability Syndrome)

Very rare. Autosomal dominant transmission or de novo mutation of a mutation or deletion of the YY1 (Yin Yang 1) gene (14q32.2) coding for the zinc finger transcription factor YY1.

Combinaison of multiple congenital anomalies and dysmorphic syndrome characterized by:

-         developmental delay 

-         intellectual disability of variable severity, 

-         movement (tremors, dystonia) and gait abnormalities

-         craniofacial dysmorphism: facial asymmetry, prominent forehead, backward tilted ears, downslanting palpebral fissures, ptosis, thick lower lip, micrognathia or cleft palate, swollen eyelids 

-         variable cerebral malformations: delayed myelination, gliosis, hydrocephalus.

Other types of congenital malformations have also been reported, including ocular, renal, cardiac and joint anomalies. Some patients show behavioral changes (autism, hyperactivity or anxiety).

Anesthetic implications:

risk of difficult intubation; echocardiography; hydrocephaly ?

References : 

-        Koruga N, Pušelji´c, S, Babic´ M, C´uk M, Cvitkovic´ Roic´A,  Vrtari´c, V, Soldo Koruga A, Ronˇcevi´c A, Tomac V,  Rotim T, et al.
First reported case of Gabriele-de Vries syndrome with spinal dysraphism.
Children 2023, 10 : 623. https://doi.org/10.3390/ children10040623

Updated: May 2023