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]

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 ?
Defects in the nucleotide excision repair (NER) system cause rare entities including Xeroderma Pigmentosum, De Sanctis-Cacchione, Cockayne syndrome, and Trichothiodystrophy, which have higher incidence in areas with high levels of consanguinity.
Berneburg et al., "Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy," DNA Repair, vol.
DiGiovanna, "Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship," Neuroscience, vol.
Lehmann, "DNA repair-deficient diseases, xerodermapigmentosum, Cockayne syndrome and trichothiodystrophy," Biochimie, vol.