Definition:
Sabinas brittle hair syndrome is a hereditary disease, autosomal recessive in pattern, affecting the integumentary system (the organ system that primarily protects the body from damage - including skin, nails, hair, sweat glands, etc.).
Also alternatively known as Sabinas syndrome or brittle hair-mental deficit syndrome, this disease is named after a small community in northern Mexico (Sabinas) where it was first observed.
Classic presentations of Sabinas brittle hair syndrome include brittle hair, nail dysplasia, and mild mental retardation. In addition, affected patients show increased copper/zinc ratio, reduced hair cystine levels, and presence of arginosuccinic acid in the urine and blood.
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