Trichothiodystrophy (TTD) is a rare genetic disorder that involves the production of abnormal brittle hair, icthyosis, and physical and developmental disorders. It can also involve ataxia, stunted growth, and skin sensitivity to light and UV rays. TTD is a seriously disabling disorder with a severe skin affliction and serious developmental defects and growth retardation. It can also cause immune deficit cells, premature aging in facial features, cataracts and dental abnormalities, poor weight gain, autistic characteristics such as irritation to high frequency sounds, and repetitive movements and behaviours. It is one of a group of diseases - the others being xeroderma pigmenentusm and cockayne syndrome. It is a rare and recessive disorder, and patients can be characterised by symptoms of sulphur deficient hair, and in about 80% of cases, photosensitivity. There have been no reports of association with skin cancers, but patients have been known to have short life expectancy. Diagnosis is made by studying the hair mounts, and by amino acid analysis which demonstrates decreased high sulphur matrix proteins. The hair is so brittle that once it emerges from the skin and becomes exposed to the environment, the hair breaks and fractures, and so the result is brittle, short and sparse hair. This is why most of the children with TTD have sparse eyebrows and eyelashes.There is currently no treatment for TTD.
By Ordering From ImagematsRay Taarnby would like to offer 25% of the sale priceas a donation to The Friends of Sammy-Joe Foundationfrom all people who order matting from them. Ray Taarnby75 Manton StreetHindmarsh South Australia 5007www.imagemats.com.auPhone +61 (8) 7002 5277Fax +61 (8) 7225 1914Mobile +61 (0) 419 400 071Or Renting A Vehicle From The Rent Van CompanyThe Rent Van Company are offering donations toThe Friends Of Sammy-Joe Foundationfor every vehicle hired from them.Click here for further information.Thank you so much for your support.
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