trichothiodystrophy


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trich·o·thi·o·dys·tro·phy

(trik'ō-thī'ō-dis'trŏ-fē), [MIM*234050 and MIM*601675]
Congenital brittle hair resulting from low sulfur-containing amino acid (cysteine) content sometimes associated with mental impairment and short stature; autosomal recessive inheritance.
[tricho- + thio- + G. dys, bad, + trophē, nourishment]

trichothiodystrophy

/tricho·thio·dys·tro·phy/ (-thi″o-dis´trah-fe) sparse, brittle hair with an unusually low sulfur content and a banded appearance under polarized light, often accompanied by short stature and mental retardation.

BIDS syndrome

An acronym for an autosomal recessive genodermatosis (MIM:234050) defined by its characteristic disorders: 
▪ Brittle hair;
▪ Intellectual impairment;
▪ Decreased fertility;
▪ Short stature.
A condition characterised by brittle, sulfur-poor hair, mental and physical retardation, onychodystrophy, ichthyotic skin, caused by an inherited defect in the ‘excision repair’ pathway
References in periodicals archive ?
Amy is thought to be the only person in the UK to have Trichothiodystrophy, also known as Tay Syndrome, a DNA repaird is order in which the cells of the body are constantly breaking down due to exposure to UV light and cannot be repaired.
Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy.
Structural and molecular hair abnormalities in trichothiodystrophy.
In the June 27 online issue of Nature Genetics, researchers at the Institute for Systems Biology (ISB) report that technology developed at the ISB and applied in a new way to yeast has led to an important new insight that could explain the molecular mechanism of Trichothiodystrophy, a rare human disease.