Sabinas brittle hair syndrome
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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.