Weiss-Kruszka Syndrome is a neurodevelopmental disorder with facial differences (wide set eyes, down slanting palpebral fissures, ptosis, metopic ridging), delays in development, low muscle tone, ear abnormalities (which may be accompanied by hearing loss), feeding difficulties, and autism. Some individuals also have defects of the heart as well as abnormalities in a structure of the brain called corpus callosum that allows communication between the left and right side of the brain. There is a wide range of severity of features seen, even within members of the same family that have the syndrome. Variants (mutations) in the ZNF462 gene or deletion of the 9p31.2 region in chromosome 9 (which involves the ZNF462 gene) have been reported in individuals with Weiss-Kruszka Syndrome and it is usually diagnosed with whole exome sequencing, whole genome sequencing, or a multi-gene panel. This syndrome is inherited in an autosomal dominant but in about 95% of affected individuals, the variants are not inherited from either parent (also known as a de novo variant). While there is no specific therapy for this condition that addresses the underlying cause, treatment for Weiss-Kruszka syndrome is based on an individual’s symptoms.
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