Hypodontia and nail dysgenesis
- Hypodontia and nail dysgenesis
- A genetic disorder characterized by the absence of several teeth (hypodontia) and abnormalities of the nails (nail dysgenesis) at birth. The disorder is also known as Witkop syndrome or the tooth and nail syndrome (TNS). The tooth and nail defects in the syndrome are highly variable. The number and type of congenitally missing permanent and/or primary teeth vary. The nails are thin, slow-growing, brittle and spoon-shaped (koilonychia). Toenails are usually more severely affected than the fingernails. In rare cases, the nails spontaneously separate from the nail beds or are absent at birth. About 1 in 1,000 people has TNS. It is inherited as an autosomal dominant trait capable of affecting males and females and multiple generations. The syndrome was first described by Dr. Carl Witkop in 1965. The gene responsible for TNS was identified in 2001 and is termed MSX1. A nonsense mutation in this gene in TNS appears to encode a protein that is completely nonfunctional. Another nonsense mutation in MSX1 has been associated with oral clefting in addition to tooth agenesis (absence of teeth).
Medical dictionary.
2011.
Look at other dictionaries:
Syndrome, tooth and nail — A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or Witkop syndrome (TNS). It was first described by Dr. Carl Witkop in 1965.… … Medical dictionary
Tooth and nail syndrome — A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or Witkop syndrome (TNS). It was first described by Dr. Carl Witkop in 1965.… … Medical dictionary
Nail dysgenesis and hypodontia — A genetic disorder characterized by abnormalities of the nails (nail dysgenesis) and the absence of several teeth (hypodontia) at birth. The disorder is also known as Witkop syndrome or as the tooth and nail syndrome (TNS). The tooth and nail… … Medical dictionary
Syndrome, Witkop — A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or, more picturesquely, as the tooth and nail syndrome (TNS). The tooth and… … Medical dictionary
Witkop syndrome — A genetic disorder characterized by the absence of several teeth at birth and abnormalities of the nails. The disorder is also known as hypodontia and nail dysgenesis or, more picturesquely, as the tooth and nail syndrome (TNS). The tooth and… … Medical dictionary
List of cutaneous conditions — This is an incomplete list, which may never be able to satisfy particular standards for completeness. You can help by expanding it with reliably sourced entries. See also: Cutaneous conditions, Category:Cutaneous conditions, and ICD 10… … Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… … Wikipedia
Hypohidrotic ectodermal dysplasia — Classification and external resources ICD 10 Q82.4 ICD 9 757.31 … Wikipedia
List of diseases (C) — A list of diseases in the English wikipedia.C* C syndrome * C1 esterase deficiency (angioedema)CaCac Cal* Cacchi Ricci disease * CACH syndrome * Cafe au lait spots syndrome * Caffey disease * CAHMR syndrome * Calcinosis cutis (see also CREST… … Wikipedia
