DOORS syndrome

Definition:

DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures) is a rare autosomal recessive disorder. The hallmarks of the syndrome 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. As a probable cause of DOORS syndrome, mutations in TBC1D24 have been identified.

References:

[1]. Aaron W James, et al. DOOR syndrome: clinical report, literature review and discussion of natural history. Am J Med Genet A. 2007 Dec 1;143A(23):2821-31. [Content Brief]

[2]. Philippe M Campeau, et al. The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 Jan;13(1):44-58. [Content Brief]

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