Trichothiodystrophy

Trichothiodystrophy
Other namesAmish brittle hair syndrome, BIDS syndrome, brittle hair–intellectual impairment–decreased fertility–short stature syndrome[1]
This condition is inherited in an autosomal recessive manner.[1]
SpecialtyDermatology, medical genetics 

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.[2]

  1. ^ a b "Trichothiodystrophy". Genetics Home Reference. Retrieved 19 February 2018.
  2. ^ Lambert WC, Gagna CE, Lambert MW (2010). "Trichothiodystrophy: Photosensitive, TTD-P, TTD, Tay Syndrome". Diseases of DNA Repair. Advances in Experimental Medicine and Biology. Vol. 685. pp. 106–10. doi:10.1007/978-1-4419-6448-9_10. ISBN 978-1-4419-6447-2. PMID 20687499.{{cite book}}: CS1 maint: multiple names: authors list (link)
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