[MIM 220 500]

Acronym in English of Deafness, Onychodystrophy, Osteodystrophy and mental Retardation.

Prevalence: < 1.106. Autosomal recessive transmission of a mutation of the TBC1D24 gene (16p13.3).

The four main symptoms are:

-        deafness: sensorineural, total or partial, due to an inner ear or auditory nerve malformation

-        onychodystrophy: various ungueal malformations: absence, hypoplasia, discoloration

-        osteoarthrosis: abnormalities of the bones of the fingers and toes: triphalangia of the thumb, hypoplasia or absence of distal phalanges of the fingers

-        mental retardation: moderate to severe, sometimes associated with abnormalities of the EEG and convulsions.

Other signs that can be present:

-        abnormal dermatoglyphes at the level of the fingers and toes

-        coarse facies: epicanthus, moderate ptosis, antimongoloid palpebral fissures, long philtrum, high-arched palate.

-        ocular problems: myopia, nystagmus, cataract, slow pupillary response, sometimes optic atrophy

Anesthetic implications:

deaf  or hearing-impaired child

References : 

-         Santos M, Reis-Rego A, Coutinho M, Almeida e Souza C.
DOOR syndrome: a case report and its embryological basis.
Int J Pediatr Otorhinolaryngol 2019; 117: 57-60.

Updated: February 2019