6q terminal deletion syndrome

A rare partial deletion of the long arm of chromosome 6 characterized by a variable clinical phenotype that includes a characteristic craniofacial dysmorphism (including microcephaly broad nose with prominent nasal root and bulbous nasal tip large ears that may be malformed and low-set characteristic downturned mouth and short neck) global development delay intellectual disability and variable non-specific congenital malformations. Muscular hypotonia seizures retinal anomalies and variable brain abnormalities have been reported in association.