DOOR (deafness, onychodystrophy, osteodystrophy, and mental retardation) syndrome is a genetic disease which is inherited in an

autosomal recessive In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

fashion. DOOR syndrome is characterized by mental retardation, sensorineural deafness, abnormal nails and

phalanges The phalanges (singular: ''phalanx'' ) are digital bones in the hands and feet of most vertebrates. In primates, the thumbs and big toes have two phalanges while the other digits have three phalanges. The phalanges are classed as long bones. ...

of the hands and feet, and variable seizures. A similar deafness-onychodystrophy syndrome is transmitted as an

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...

trait and has no mental retardation. Some authors have proposed that it may be the same as Eronen Syndrome, but since both disorders are extremely rare it is hard to make a determination.

Signs and symptoms

Not all of the DOOR symptoms are consistently present. They can vary in severity, and additional features can be noted in individuals affected by DOOR syndrome. Some of these additional features are: * Polyhydramnios (increased amniotic fluid during pregnancy) and increased nuchal fold during pregnancy * Specific facial features such as a large nose * Severe and sometimes refractory seizures, abnormalities on the magnetic resonance imaging of the brain * Increased 2-oxoglutaric acid in the blood and urine - this compound is made or used by several enzymes * Finger-like thumbs * Visual impairment * Peripheral neuropathy (nerves conducting sensation from extremities to the brain) and insensivity to pain Intellectual impairment is present in all reported cases, but the severity can vary widely. The prognosis in terms of survival also varies greatly from early childhood until adulthood.

Cause

The recurrence of DOOR in siblings and the finding of DOOR syndrome in a few families with consanguinity suggest that the condition is an autosomal recessive genetic condition. Mutations in TBC1D24 have been identified in 9 families.

Diagnosis

Treatment

References

External links

{{Medical resources , ICD10 = Q87.8 , ICD9 = , ICDO = , OMIM = 220500 , OMIM_mult = , MedlinePlus = , eMedicineSubj = , eMedicineTopic = , eMedicine_mult = , MeshID = Autosomal recessive disorders Genetic disorders with OMIM but no gene Syndromes with intellectual disability Syndromes with sensorineural hearing loss Rare syndromes