Pilodental dysplasia-refractive errors syndrome

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Synonyms: Euhidrotic ectodermal dysplasia | Kopysc-Barczyk-Krol syndrome

Pilodental dysplasia-refractive errors syndrome is a rare ectodermal dysplasia syndrome characterized by dysplastic abnormalities of the hair and teeth (including hypodontia abnormally shaped teeth scalp hypotrichosis and pili annulati) follicular hyperkeratosis on the trunk and limbs and hyperopia. Intensified delineation reticular hyperpigmentation of the nape and astigmatism have also been reported. There have been no further descriptions in the literature since 1985.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

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