Ectodermal dysplasia with natal teeth, turnpenny type

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;

Details

Origin ID

601345;

UMLS CUI

C1832444;

Currated CISMeF NLP mapping
- Ectodermal dysplasia with natal teeth Turnpenny type (disorder) [SNOMED CT concept]
- Ectodermal dysplasia with natal teeth, Turnpenny type [ICD-11 More detail]
- Ectodermal dysplasia with natal teeth, Turnpenny type [ORDO Disease]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH concept]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH Supplementary Concept]
HPO term(s)
- Abnormal nail morphology [HPO term]
- Acanthosis nigricans [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cranial hyperostosis [HPO term]
- Ectodermal dysplasia [HPO term]
- Flexural acanthosis nigricans [HPO term]
- Hypodontia [HPO term]
- Hypoplastic pilosebaceous units [HPO term]
- Hypoplastic sweat glands [HPO term]
- Natal tooth [HPO term]
- Oligodontia [HPO term]
- Relative macrocephaly [HPO term]
- Short stature [HPO term]
- Slow-growing scalp hair [HPO term]
- Sparse and thin eyebrow [HPO term]
- Sparse eyebrow [HPO term]
- Sparse eyelashes [HPO term]
- Sparse scalp hair [HPO term]
- thin, slow-growing scalp hair [HPO term]
ORDO concept(s)
- Ectodermal dysplasia with natal teeth, Turnpenny type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ectodermal dysplasia with natal teeth Turnpenny type (disorder) [SNOMED CT concept]
- Ectodermal dysplasia with natal teeth, Turnpenny type [ORDO Disease]
- Ectodermal dysplasia with natal teeth, Turnpenny type [ICD-11 More detail]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH Supplementary Concept]
- ectodermal dysplasia with natal teeth, turnpenny type [MeSH concept]

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