Disease Information for Witkop syndrome (4p16.1)

Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Gene locus 4p16.1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
PROCESS/Eponymic (category)
PROCESS/Eponymic/Esoteric/Not yet integrated into database
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/INCIDENCE/Esoteric disease (example)

under construction gene locus 4p16-1; WITKOP SYNDROME; DYSPLASIA OF NAILS WITH HYPODONTIA;TOOTH-AND-NAIL SYNDROME; TNS; Gene map locus 4p16-1; Tooth-and-nail syndrome (Witkop syndrome) is caused by mutation in the MSX1 gene; CLINICAL FEATURE; Changes are limited largely to teeth (some of which are missing) and nails (which are poorly formed early in life, especially toenails); This condition is distinguished from anhidrotic ectodermal dysplasia by autosomal dominant inheritance and little involvement of hair and sweat glands; The teeth are not as severely affected; the condition is frequent among Dutch Mennonites in Canada; autosomal dominant inheritance; The main features were hypoplastic nails and hypodontia; the scalp hair was fine; Characteristic, centrally hollowed, dysplastic toenails were frequently apparent only in childhood; The condition is usually not detected until the permanent teeth fail to erupt; Mandibular incisors, second molars, and maxillary canines are most often absent; (In simple hypodontia, premolars and maxillary lateral incisors are most often missing) Somewhat pouting lower lip was described; Clinical Synopsis: HEAD AND NECK : Lip eversion/pouting lower lip; Teeth;Normal to small primary teeth but Partial to total absence of permanent teeth; Nails ;Thin, small friable nails-Koilonychia -Longitudinal ridging-Nail pits-Toenails often more affected than fingernails-Nail changes improve with age ; normal sweat glands and ability to tolerate heat; also Thin, fine hair described in few individuals;(OMIM Reference)


External Links Related to Witkop syndrome (4p16.1)
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)