POGZ

Parents

White-Sutton syndrome (WHSUS) syndrome is a rare disorder characterized by autism, delayed motor and speech development, and mild to severe intellectual disability. Up to now about 50 patients with WHSUS are reported in medical literature, but there will be more patients diagnosed or undiagnosed. Besides autism and delayed development or intellectual disability many patients have a small head circumference (microcephaly), feeding problems and/or problems with the stomach and/or intestines, tendency to obesity and visual problems. Visual problems were very common among patients but were varied in their manifestation and are rather aspecific, including for example mild myopia, astigmatism, and cerebral visual impairment.

WHSUS occurs mostly new in the affected patients, that means that is not inherited from one of the parents. In that case, recurrence risk is low.