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;
Origin ID : 601345;
UMLS CUI : C1832444;
Currated CISMeF NLP mapping
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)