Sabinas brittle hair syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''Sabinas brittle hair syndrome''', also called '''Sabinas syndrome''' or '''brittle hair-mental deficit syndrome''', is a [[hereditary disease]]<ref>{{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=}}</ref> affecting the [[integumentary system]]. | '''Sabinas brittle hair syndrome''', also called '''Sabinas syndrome''' or '''brittle hair-mental deficit syndrome''', is a [[hereditary disease]]<ref>{{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=}}</ref> affecting the [[integumentary system]]. | ||
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[[Category:Conditions of the skin appendages]] | [[Category:Conditions of the skin appendages]] |
Revision as of 15:50, 20 August 2012
Sabinas brittle hair syndrome | |
Classification and external resources | |
OMIM | 211390 |
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Overview
Sabinas brittle hair syndrome, also called Sabinas syndrome or brittle hair-mental deficit syndrome, is a hereditary disease[1] 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.