Disease or Syndrome
trichothiodystrophy syndrome
Subclass of:
Multiple congenital anomalies; Skin Diseases, Genetic; Skin Abnormalities
Definitions related to trichothiodystrophy syndromes:
  • (trichothiodystrophy) A hereditary condition characterized by sparse and brittle hair, short stature, and mental retardation.
    NCI Dictionary of Cancer Terms
    U.S. National Cancer Institute, 2021
  • (trichothiodystrophy) A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • 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 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
  • Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).
    NIH Genetic and Rare Diseases
    National Center for Advancing Translational Sciences
Try this search on: Farlex, Merriam-Webster, Oxford Dictionary, or Wordnik

This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.