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Condition report · Otolaryngological

Mohr-Tranebjaerg Syndrome

Deafness-dystonia-optic neuronopathy syndrome, also called Mohr-Tranebjaerg syndrome, is a rare X-linked condition mainly affecting boys. It begins with progressive hearing loss and later causes movement problems and vision loss.

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The condition we analyse

Deafness-Dystonia-Optic Neuronopathy (Mohr-Tranebjaerg) Syndrome

X-linked recessive

An X-linked condition caused by changes in TIMM8A, with hearing loss beginning in early childhood followed by dystonia and optic atrophy.

What a diagnosis changes

Recognising it early avoids mistaking it for isolated hearing loss and allows counselling of female carriers in the family.

Genes analysed

Also known as

DDON syndrome; DDP; deafness - dystonia - optic neuronopathy syndrome; deafness dystonia optic neuronopathy syndrome (DDON); MOHR-Tranebjaerg syndrome; Mohr-Tranebjaerg syndrome, X-linked recessive; MTS

MONDO:0010578OMIM 304700Orphanet 52368MedGen 162903

Limitations

  • Some cases are caused by larger deletions on the X chromosome that also include the BTK gene (causing X-linked agammaglobulinaemia as well); these need copy-number analysis and may be missed.

Other otolaryngological conditions

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