DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental 
retardation) is a rarely described disorder with less than 35 reports in the 
literature. The hallmarks of the syndrome, represented in the DOOR acronym, 
include sensorineural hearing loss, hypoplastic or absent nails on the hands and 
feet, small or absent distal phalanges of the hands and feet, and mental 
retardation. The purpose of our communication is to report on an additional 
patient with DOOR syndrome, delineate common as well as less frequent 
manifestations of DOOR syndrome, bring attention to the under appreciated facial 
features in DOOR syndrome, document the natural history of this disorder, and 
propose a suggested workup of those suspected of DOOR syndrome. DOOR syndrome is 
associated with characteristic, coarse facial features with large nose with wide 
nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and 
downturned corners of the mouth. The natural history is one of a deteriorative 
course, with progressive neurological manifestations including sensorineural 
deafness, seizures from infancy, optic atrophy, and a peripheral polyneuropathy. 
The majority of patients with DOOR syndrome have elevated levels of 
2-oxoglutarate in the urine and plasma. In this report, we present a newborn 
with manifestations consistent with DOOR syndrome and a progressive clinical 
course. A comprehensive literature review reveals 32 patients with DOOR 
syndrome. In conclusion, DOOR syndrome is a neurometabolic disorder with 
recognizable facial features and a progressive natural history.