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.