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 ?
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.
Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.
One of the proteins identified by Ranish in yeast appeared to be a likely candidate for the gene product that was defective in this form of Trichothiodystrophy.