Preferred Label : Odonto-onycho-dermal dysplasia;
ICD-11 definition : 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.;
ICD-11 synonym : OODD (MIM 257980); OODD;
Origin ID : 1256237872;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
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.
