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Definition

A syndrome characterized by sensorineural deafness, mental retardation, hypoplastic or absent nails, small or absent distal phalanges of hands and feet. Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy.

Acronym

DOORS

Synonyms

Brachydactyly due to absence of distal phalanges
Digitorenocerebral syndrome
DOOR syndrome
DRC syndrome
Eronen syndrome

Keywords

Deafness
Epilepsy
Mental retardation

 
Disclaimer

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