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Ectodermal dysplasia-syndactyly syndrome

Disease definition

Ectodermal dysplasia-syndactyly syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by sparse to absent scalp hair, eyebrows, and eyelashes (with pili torti when present), widely spaced, conical-shaped teeth with peg-shaped, conical crowns and enamel hypoplasia and palmoplantar hyperkeratosis, associated with partial cutaneous syndactyly in hands and feet.

ORPHA:247820

Classification level: Disorder
  • Synonym(s):
    • EDSS
    • EDSS1
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q82.8
  • OMIM: 613573
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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