loading...| Preferred Name | Naegeli-Franceschetti-Jadassohn syndrome | |
| Synonyms |
NFJS |
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| Definitions |
(NFJS) - A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. |
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| ID |
http://identifiers.org/omim/161000 |
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| altLabel |
NFJS |
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| definition |
(NFJS) - A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. |
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| id |
OMIM:161000 |
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| notation |
OMIM:161000 |
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| prefLabel |
Naegeli-Franceschetti-Jadassohn syndrome |
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| subClassOf |