Trichothiodystrophy Syndromes

Overview

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Is a:

Disease or Syndrome

Definition:

Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ichthyosis, and photosensitivity correlated with a nucleotide excision repair defect. All individuals with this disorder have a deficiency of cysteine-rich keratin-associated proteins found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ercc2/XPD and ercc3/XPB. Nonphotosensitive trichothiodystrophy is caused by mutation in the ttdn1 gene.

Synonyms:

1 Trichothiodystrophies, Nonphotosensitive
1 Trichothiodystrophy, Nonphotosensitive
BIDS Syndrome
BIDS Syndromes
Nonphotosensitive 1 Trichothiodystrophies
Nonphotosensitive 1 Trichothiodystrophy
Photosensitive Trichothiodystrophies
Photosensitive Trichothiodystrophy
PIBIDS Syndrome
PIBIDS Syndromes
Syndrome, BIDS
Syndrome, PIBIDS
Syndrome, Trichothiodystrophy
Syndromes, BIDS
Syndromes, PIBIDS
Syndromes, Trichothiodystrophy
Trichothiodystrophies, Nonphotosensitive 1
Trichothiodystrophies, Photosensitive
Trichothiodystrophy Syndrome
Trichothiodystrophy, Nonphotosensitive 1
Trichothiodystrophy, Photosensitive

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