This is a syndrome of multiple congenital anomalies. Among these are dwarfism, micrognathia, hard palate anomalies, hypotonia, anomalies of the external genitalia, polysyndactyly, microcephaly, and mental retardation. It has been suggested that many individuals have a characteristic behavioral profile consisting of cognitive delays, hyperreactivity, irritability, language deficiency, and autism spectrum behaviors. Some individuals exhibit aspects of self destructive behavior. Tissue levels of cholesterol are low.