" /> Ectodermal dysplasia with natal teeth, turnpenny type - CISMeF





Preferred Label : Ectodermal dysplasia with natal teeth, turnpenny type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ectodermal dysplasia, hair/tooth type;

Description : Turnpenny et al. (1994) reported a 4-generation Scottish family with dominantly inherited ectodermal dysplasia, involving teeth, skin, and hair. Ano- or oligodontia was characteristic by late adolescence, but some patients were born with multiple teeth. Flexural acanthosis nigricans was present in most patients during childhood or early adolescence. Heat tolerance was variable, but all subjects sweated. Scalp hair was thin, and body hair was scanty. Nails were normal. Although some manifestations resembled those in the Clouston syndrome (129500), Turnpenny et al. (1994) suggested that these cases represent a distinct form of ectodermal dysplasia. A detailed description of this family was presented by Turnpenny et al. (1995). *FIELD* RF 1. Turnpenny, P. D.; De Silva, D.; Gregory, D. W.; Gray, E. S.; Dean, J. C. S.: A new dominantly inherited ectodermal dysplasia presenting with natal teeth. (Abstract) J. Med. Genet. 31: 171 only, 1994. 2. Turnpenny, P. D.; De Silva, D. C.; Gregory, D. W.; Gray, E. S.; Dean, J. C. S.: A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome? Clin. Dysmorph. 4: 324-333, 1995. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 601345;

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03/05/2025


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