Witkop syndrome

(redirected from ECTD3)

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 .