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Trichothiodystrophy (TTD)

(TRIH-koh-thy-oh-DIS-truh-fee)

Trichothiodystrophy (TTD) is an autosomal recessive genetic disorder. First named TTD, by Vera Price in 1979, this disoder was not identified as an ERCC-related disorder until 2021. 

Breaking Down the Name

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tricho = hair
thio = sulfur
dys = faulty 
trophy = nourishment
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Symptoms

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Photosensitivity

Dysmyelination/Neurological Concerns

Ichthyosis*

Brittle Hair*

Short stature with poor weight gain

Cataracts

Delayed Development

Intellectual Disabilities​​

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Vision

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