Tay syndrome
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Tay syndrome Classification and external resources |
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OMIM | 601675 |
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DiseasesDB | 13341 |
Tay syndrome is a recessive hereditary disease characterised by trichothiodystrophy (sulfur-deficient brittle hair) with photosensitivity, ichthyosiform erythroderma (fish-like scales on skin), dystrophic (abnormal) finger and toe-nails, progeria-like faces (prematurely aged looking face), growth and mental retardation, infertility and variable other defects.
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[edit] Eponym
It is named after Dr. Tay Chong Hai, a Singaporean doctor who discovered and subsequently published a paper on it in 1971.[1] Dr. Tay is the first doctor in South East Asia to be honoured by having a disease named after him. The Tay syndrome should not be confused with the Tay-Sachs disease.
[edit] Synonyms
Tay syndrome is synonymous with:
- IBIDS (ichthyosis-brittle hair-impaired intelligence-decreased fertility-short stature) syndrome
- congenital ichthyosis-trichodystrophy syndrome
- ichthyosiform erythroderma-hair abnormality-mental and growth retardation syndrome
- PIBI(D)S [photosensitivity-ichthyosis-brittle hair-impaired intelligence-(possibly decreased fertility)-short stature] syndrome
- sulfur-deficient brittle hair syndrome
- trichothiodystrophy 2 (TTD 2)
- trichothiodystrophy-congenital ichthyosis syndrome
- trichothiodystrophy-xeroderma pigmentosum syndrome
[edit] References
- ^ Tay CH (1971). "Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder". Arch Dermatol 104 (1): 4-13. doi: . PMID 5120162.