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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

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

Symptoms


Photosensitivity
Dysmyelination/Neurological Concerns
Ichthyosis*
Brittle Hair*
Short stature with poor weight gain
Cataracts
Delayed Development
Intellectual Disabilities​​






Vision
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