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CHAND syndrome

Disease definition

A rare ectodermal dysplasia syndrome characterized by the association of sparse, woolly, curly hair, ankyloblepharon, and nail dysplasia. Additional reported features include abnormal oral frenula, bifid tongue, lip pits, adhesions between upper and lower lips, hypertelorism and flat nasal bridge, alveolar synechia, and imperforate vagina.

ORPHA:1401

Classification level: Disorder
  • Synonym(s):
    • Baughman syndrome
    • CHANDS
    • Curly hair-ankyloblepharon-nail dysplasia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q82.8
  • OMIM: 214350
  • UMLS: C0406733
  • MeSH: -
  • GARD: 1233
  • MedDRA: -
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