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  • An idiopathic developmental disorder with characteristics of median cleft of the upper lip, midline polyps of the facial skin and nasal mucosa and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development. Presents at birth with a variable phenotype ranging from mild facial dysmorphism to more severe anomalies resembling frontonasal dysplasia. Normal neuropsychological development was reported in all but one case that presented with epileptic seizures. Sacral dimples may be observed at birth, and hypospadias has been reported in some male patients.
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