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Brittle hair syndrome, Sabinas type

Orpha number ORPHA3123
Prevalence of rare diseases Unknown
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD 10 code -
MIM number
Synonym(s) Brittle hair - mental deficiency
Trichothiodystrophy type B

Summary

Sabinas brittle hair syndrome is a form of nonphotosensitive trichothiodystrophy characterized by brittle hair, neuroectodermal dysplasia and a low-sulphur content in the hair. Less than 20 cases have been reported so far. The hair shows a diminished cuticle and an apparently collapsed cortex. Onychodystrophy was present in some patients. It is an autosomal recessive disorder. Some authors suggest that Sabinas brittle hair syndrome, Pollitt syndrome, and Amish brittle hair syndrome are the same disorder. *Authors: Drs A. Rossi and Cantisani (May 2006)*.

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