|Pathology Photo of the Day
Can you hear me? Please open the DOORS.
"He who opens a school door, closes a prison." - Victor Hugo
|DOOR or DOORS syndrome is a rare autosomal recessive disorder of unknown cause. Ronald
Cantwell first described DOOR syndrome in 1975. Qazi and colleagues
suggested changing the name to DOORS syndrome.
The acronym DOORS syndrome includes:
D = Deafness,
O = Onychodystrophy,
(Onychodystrophy represents various pathologic processes of the nails such as infectious and noninfectious disorders including onychomycosis, psoriasis and allergic and irritant dermatitis.)
O = Osteodystrophy,
R = Mental Retardation, and
S = Seizures,
This condition is characterized by sensorineural deafness, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, intellectual deficiency, and seizures.
Bone abnormalities include tri-phalangeal thumbs, bi-phalangeal digits of hands and feet, and dystrophic terminal phalanges of some of the fingers and toes.
According to study of James et al DOOR syndrome is a neurometabolic disorder with recognizable facial features and a progressive natural history.
It 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.
It has been found in a recent study that TBC1D24 mutations in 16p13.3 were associated with many patients with DOORS syndrome.
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