Witkop syndrome

Preferred Label : Witkop syndrome;

CISMeF acronym : ECTD3; TNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nail dysplasia with hypodontia; ECTD3; Ectodermal dysplasia 3, tooth/nail type; Ectodermal dysplasia 3, witkop type; Tooth-and-nail syndrome; TNS;

Description : Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Witkop syndrome is a rare autosomal dominant ectodermal dysplasia involving the teeth and nails. Although a few reported cases have sparse or fine hair, almost all affected individuals have normal hair, sweat glands, and ability to tolerate heat. Affected individuals have a variable number and variable types of congenitally missing permanent and/or primary teeth, which frequently results in lip eversion due to loss of occlusion in the vertical dimension. Nails are generally thin, slow-growing, brittle, and spoon-shaped (koilonychia). Toenails are usually more severely affected than fingernails. The nail defects are alleviated with age and may not be easily detectable during adulthood (summary by Jumlongras et al., 2001).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the MSH homeobox 1 gene (MSX1, 142983.0003);

Prefixed ID : #189500;

Details

Origin ID

189500;

UMLS CUI

C0406735;

Currated CISMeF NLP mapping
- Autosomal dominant hypodontia with nail dysplasia [ICD-11 More detail]
- Hypodontia and nail dysgenesis (disorder) [SNOMED CT concept]
- Hypodontia-dysplasia of nails syndrome [ORDO Disease]
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) [SNOMED CT concept]
- Tooth and Nail Syndrome [NCIt concept]
- Witkop syndrome [MeSH concept]
- Witkop syndrome [MeSH Supplementary Concept]
- tooth and nail syndrome [DO Concept]
DO Cross reference
- tooth and nail syndrome [DO Concept]
False automatic mappings
- 2-(4-toluidino)-6-naphthalenesulfonic acid [MeSH concept]
- 2-(4-toluidino)-6-naphthalenesulfonic acid [MeSH Supplementary Concept]
- 6-p-toluidinonaphthalene-2-sulphonic acid [Substance BNPC]
- TNC wt Allele [NCIt concept]
- Tennessee [NCIt concept]
- Trivial Name Data Type [NCIt concept]
- Tunisia [NCIt concept]
Genes related to phenotype
- Msh homeobox 1 [OMIM gene]
HPO term(s)
- Agenesis of permanent teeth [HPO term]
- Autosomal dominant inheritance [HPO term]
- Concave nail [HPO term]
- Fine hair [HPO term]
- Longitudinal ridging [HPO term]
- Microdontia of primary teeth [HPO term]
- Nail pits [HPO term]
- Ridged nail [HPO term]
- Small nail [HPO term]
- Sparse hair [HPO term]
- Sparse, fine hair [HPO term]
- Thin hair [HPO term]
Not associated HPO term(s)
- Abnormal sweat gland morphology [HPO term]
ORDO concept(s)
- Hypodontia-dysplasia of nails syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplastic enamel-onycholysis-hypohidrosis syndrome (disorder) [SNOMED CT concept]
- Tooth and Nail Syndrome [NCIt concept]
- Witkop syndrome [MeSH Supplementary Concept]
- Witkop syndrome [MeSH concept]
- tooth and nail syndrome [DO Concept]

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