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Odonto-onycho-dermal dysplasia

Orpha number ORPHA2721
Synonym(s) OODD
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • Q82.4
OMIM
UMLS
  • C1275074
MeSH
  • C537742
MedDRA -
SNOMED CT
  • 403762003

Summary

Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair. Less than 15 cases have been described so far. Transmission is autosomal recessive. Homozygous mutations have been described in the WNT10A gene in six patients born to three consanguineous families.


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