Sabinas brittle hair syndrome
- Sabinas brittle hair syndrome
Infobox_Disease
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OMIM = 211390
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Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is a hereditary disease [cite journal |author=Howell RR, Arbisser AI, Parsons DS, "et al" |title=The Sabinas syndrome |journal=Am. J. Hum. Genet. |volume=33 |issue=6 |pages=957–67 |year=1981 |pmid=7325159 |pmc=1685163 |doi= |url=] affecting the integumentary system.
Diagnosis
Symptoms include brittle hair, mild mental retardation and nail dysplasia. The syndrome was first observed in Sabinas, a small community in northern Mexico.
The principal biochemical features of the illness are reduced hair cystine levels, increased copper/zinc ratio, and presence of arginosuccinic acid in the blood and urine.
Inheritance
Sabinas brittle hair syndrome is transmitted as an autosomal recessive genetic trait.
References
External Links
*RareDiseases|313|Sabinas brittle hair syndrome is a form of nonphotosensitive trichothiodystrophy; Brittle hair and mental deficit
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