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Pilodental dysplasia-refractive errors syndrome

Disease 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.

ORPHA:2892

Classification level: Disorder
  • Synonym(s):
    • Euhidrotic ectodermal dysplasia
    • Kopysc-Barczyk-Krol syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 262020
  • UMLS: C1849805
  • MeSH: -
  • GARD: 277
  • MedDRA: -
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