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 has an autosomal recessive pattern of inheritance.

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

References

  1. Howell RR, Arbisser AI, Parsons DS; et al. (1981). "The Sabinas syndrome". Am. J. Hum. Genet. 33 (6): 957–67. PMC 1685163. PMID 7325159.

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