[MIM 604 314]

Prevalence < 1/106.

Association of:

-        blepharophimosis, ptosis

-        mental retardation

-        severe microcephaly

-        epilepsy: hypsarrythmia

-        hypoplasia of the median level of the face and cleft palate

-        laryngomalacia

-        thumbs in adduction

-        ears and genital organ anomalies

Anesthetic implications: 

heart and kidney echography, risk of difficult intubation/mask ventilation ; management of a polyhandicapped child

References : 

Updated: October 2016