Pilodental dysplasia-refractive errors syndrome

MONDO:0009873

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.

Also known as: Euhidrotic ectodermal dysplasia, Kopysc-Barczyk-Krol syndrome, PILODENTAL dysplasia with refractive errors, Trichodental dysplasia with hyperopia

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