Witkop syndrome

tooth-and-nail syn·drome

hypodontia associated with absent or very small nails at birth.
Synonym(s): witkop syndrome

tooth-and-nail syn·drome

hypodontia associated with absent or very small nails at birth.
Synonym(s): witkop syndrome

Witkop syndrome

A rare autosomal dominant ectodermal dysplasia (OMIM:189500) involving the teeth and nails. Most affected individuals have normal hair, sweat glands and ability to tolerate heat, with variable defects in permanent and primary teeth.
 
Molecular pathology
Defects of MSX1, which encodes a homeobox protein involved in epithelial-mesenchymal signalling that has roles in limb-pattern formation and craniofacial development, cause Witkop syndrome.

Witkop syndrome

(wit'kop)
[C.J. Witkop, 20th-cent. Chilean dentist and oral surgeon]
Tooth and nail syndrome .
References in periodicals archive ?
A provisional diagnosis of partial anodontia was given with differential diagnosis of ectodermal dysplasia; Rieger syndrome and Witkop syndrome were considered.
Congenitally missing teeth are seen in Witkop syndrome, Book syndrome, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, Ellis-van Creveld syndrome, Hallermann-Streiff syndrome, focal dermal hypoplasia, lipoid proteinosis, Rieger syndrome, otodental dysplasia, Coffin-Lowry syndrome, trichodental syndrome and others.
Witkop Syndrome or Tooth and Nail Syndrome This syndrome is characterized by multiple congenitally missing teeth, conical deciduous and permanent teeth and dysplastic nails.