Structured Summary
Abstract
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.
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Synonyms
26 entry terms
- Trichothiodystrophy
- Trichothiodystrophies
- Trichothiodystrophy Syndrome
- 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 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, Nonphotosensitive 1
- Trichothiodystrophies, Photosensitive
MeSH Record
Aspects Covered
34 allowable subheadings
Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.
MeSH Record
History Note
2008
MeSH Record
Previous Indexing
- Hair Diseases (1980-2007)
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AMA Style
References
- National Library of Medicine. Trichothiodystrophy Syndromes. Medical Subject Headings (MeSH). 2026. Unique ID D054463. http://id.nlm.nih.gov/mesh/2026/D054463
- Trichothiodystrophy Syndromes. In: Wikipedia. https://en.wikipedia.org/wiki/Trichothiodystrophy
- Trichothiodystrophy Syndromes. In: Wikidata. https://www.wikidata.org/wiki/Q3539030