Pilodental dysplasia-refractive errors syndrome

Orpha code: 2892OMIM code: 262020

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Euhidrotic ectodermal dysplasia
Dysplazja ektodermalna euhydryczna
Zespół Kopyścia, Barczyka i Król
Kopysc-Barczyk-Krol syndrome
ORPHA code
2892
OMIM code
262020
ICD10 code
Q82.4
ICD11 code
LD27.0Y

No additional description.

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