Tay syndrome

Tay syndrome

Infobox_Disease
Name = Tay syndrome


Caption =
DiseasesDB = 13341
ICD10 =
ICD9 =
ICDO =
OMIM = 601675
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID =

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.

Eponym

It is named after Dr. Tay Chong Hai, a Singaporean doctor who discovered and subsequently published a paper on it in 1971. [cite journal | author=Tay CH | title=Ichthyosiform erythroderma, hair shaft abnormalities, and mental and growth retardation. A new recessive disorder | journal=Arch Dermatol | year=1971 | pages=4–13 | volume=104 | issue=1 | pmid=5120162 | doi=10.1001/archderm.104.1.4] 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.

ynonyms

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

References

External links

* [http://www.nlm.nih.gov/archive/20061212/mesh/jablonski/cgi/jablonski/syndrome_cgie05e.html NIH document on Tay syndrome]


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