[MIM 616 364]

Very rare, but probably undiagnosed in many cases. Usually a de novo nonsense mutation of the POGZ gene (1q21.3). Autosomal dominant transmission has been described.

Neurodevelopmental disorder combining :

-         cognitive dysfunction, with significant learning and communication difficulties 

-         developmental delay, including delayed speech acquisition, although verbal comprehension seems adequate

-         hypotonia, with varying degrees of delay in walk capacity

-         behavioral problems: attention disorders, autistic-like behavior, sometimes (self) aggression 

and, less consistently :

-         convulsions (20 %), generalized or focal, starting between 1 and 4 years of age

-         strabismus, retinal dystrophy and ocular refraction disorders (myopia, astigmatism)

-         hearing disorders (30 %): either conductive (sequelae of repeated ear infections) or neurosensory (cochlear involvement)

-         sleep disorders: sleepwalking, difficulty falling asleep, sleep apnea 

-         eating disorders: gastrostomy is sometimes necessary in childhood; frequent vomiting; a few cases of abdominal migraines have been described

-         gastrointestinal problems: malrotation, diaphragmatic hernia 

-         genital anomalies in boys (micropenis, cryptorchidism) and urinary disorders in both sexes (hydronephrosis, renal dysplasia, megaureter, ureteral duplication) 

-         cardiac malformation: ASD, bicuspid aortic valve

-         frequent infections

-         short stature (15 %), but cases of large stature and obesity have been described

-         craniofacial anomalies: microcephaly, brachycephaly, high, high and large forehead, hypertelorism, large nasal root, anteverted nostrils, midface hypoplasia, prognathism, low-set ears, palatal anomalies (ogival palate, cleft palate, bifid uvula). 

MRI shows variable, non-specific central nervous system abnormalities in 2/3 of cases: cerebellar dysgenesis, polymicrogyria, thin corpus callosum, optic nerve hypoplasia and Dandy-Walker anomalies (see this name) may be observed.

Anesthetic implications: 

according to the associated anomalies

References : 

-          Duan J , Ye Y, Liao J, Chen L, Zhao X, Liu C, Wen J.
White-Sutton syndrome and congenital heart disease: case report and literature review.
BMC Pediatrics 2023 ; 23 : 158. doi.org/10.1186/s12887-023-03972-9

Updated: July 2023