- BIDS syndrome
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BIDS syndrome Classification and external resources OMIM 234050 DiseasesDB 32649 BIDS syndrome, also called nonphotosensitive trichothiodystrophy 1 (TTND1), Amish brittle hair brain syndrome and hair-brain syndrome,[1] is an autosomal recessive[2] genodermatosis similar to IBIDS syndrome but without the ichthyosiform changes. BIDS is characterized by brittle hair, intellectual impairment, decreased fertility, and short stature.[3]:501
It is associated with C7ORF11.[4]
See also
- PIBI(D)S syndrome
- IBIDS syndrome
- Skin lesion
- List of cutaneous conditions
References
- ^ Online 'Mendelian Inheritance in Man' (OMIM) 234050
- ^ Baden, HP; Jackson, CE; Weiss, L; Jimbow, K; Lee, L; Kubilus, J; Gold, RJ (Sep 1976). "The physicochemical properties of hair in the BIDS syndrome". American Journal of Human Genetics 28 (5): 514–521. PMC 1685097. PMID 984047. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1685097.
- ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.
- ^ Nakabayashi K, Amann D, Ren Y, et al. (March 2005). "Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy". Am. J. Hum. Genet. 76 (3): 510–6. doi:10.1086/428141. PMC 1196401. PMID 15645389. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)63346-1.
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