This report describes general characteristics of the group of diseases classified as trichothiodystrophy (TTD). TTD is a genetically heterogeneous disorder, with multiple genes and mapped loci. A listing of TTD subtypes, as defined by OMIM, may be found in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.
There are both photosensitive and non-photosensitive forms of this disease; OMIM includes both types in a single phenotypic series. The Disease Ontology uses two terms (DOID:2960 and DOID:0050528).
[updated Jan. 2018 by FlyBase; FBrf0222196]
Trichothiodystrophy (TTD) is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis (rough, thick, and scaly skin), intellectual/developmental disabilities, decreased fertility, ocular abnormalities, short stature, and infections. There are both photosensitive and non-photosensitive forms of the disorder. TTD patients have not been reported to have a predisposition to cancer (summary by Faghri et al., 2008; pubmed:18603627). [from MIM:601675; 2018.01.22]
