Trichothiodystrophy Syndromes

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.

Also Known As:

Amish Brittle Hair Brain Syndrome; Amish Brittle Hair Syndrome; BIDS Syndrome; Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome; Hair-Brain Syndrome; IBIDS Syndrome; Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation; Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature; PIBIDS Syndrome; Photosensitive Trichothiodystrophy; Tay Syndrome; Trichothiodystrophy; Trichothiodystrophy with Congenital Ichtyosis; Trichothiodystrophy, Nonphotosensitive 1; Trichothiodystrophy, Photosensitive; BIDS Syndromes; Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome; Hair Brain Syndrome; Hair-Brain Syndromes; IBIDS Syndromes; PIBIDS Syndromes; Photosensitive Trichothiodystrophies; Trichothiodystrophies; Trichothiodystrophies, Nonphotosensitive 1; Trichothiodystrophies, Photosensitive; Trichothiodystrophy Syndrome

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
  - Multiple Abnormalities: 211
    - Trichothiodystrophy Syndromes: 141
  - Skin Abnormalities: 159
    - Trichothiodystrophy Syndromes: 141
- Inborn Genetic Diseases: 11939
  - Genetic Skin Diseases: 47
    - Trichothiodystrophy Syndromes: 141
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Skin Abnormalities: 159
    - Trichothiodystrophy Syndromes: 141
  - Genetic Skin Diseases: 47
    - Trichothiodystrophy Syndromes: 141

Sabinas brittle hair syndrome

Disease Context: Research Results