Sabinas brittle hair syndrome

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 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

File:Autorecessive.svg

Sabinas brittle hair syndrome is transmitted as an autosomal recessive genetic trait.

External links

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