Preferred Label : Autosomal dominant hypodontia with nail dysplasia;
ICD-11 definition : Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia characterized
by usually normal primary teeth with permanent teeth that often fail to erupt. The
mandibular incisors, second molars, and maxillary canines are frequently absent and
the crowns may be small and conical. Lip eversion may be present. Nails are usually
small, thin and brittle with longitudinal ridges, pitting and koilonychias. Congenital
absence of the nail plate has also been reported. Toenails are usually more severely
affected than fingernails.;
ICD-11 synonym : Tooth and nail syndrome; Witkop syndrome (MIM 189500); Witkop syndrome;
Origin ID : 317823248;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
Hypodontia-nail dysplasia syndrome is a form of ectodermal dysplasia characterized
by usually normal primary teeth with permanent teeth that often fail to erupt. The
mandibular incisors, second molars, and maxillary canines are frequently absent and
the crowns may be small and conical. Lip eversion may be present. Nails are usually
small, thin and brittle with longitudinal ridges, pitting and koilonychias. Congenital
absence of the nail plate has also been reported. Toenails are usually more severely
affected than fingernails.
