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Tricho-dento-osseous syndrome

Disease definition

Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.

ORPHA:3352

Classification level: Disorder
  • Synonym(s):
    • TDO syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: Q82.4
  • OMIM: 190320
  • UMLS: C0265333
  • MeSH: C536549
  • GARD: 7799
  • MedDRA: -
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