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Mammary-digital-nail syndrome

Disease definition

Mammary-digital-nail syndrome is a syndromic limb malformation characterized by congenital onychodystrophy/anonychia, brachydactyly of the fifth finger, digitalization of the thumbs, with absence or hypoplasia of the distal phalanges of the hands and feet in association with juvenile hypertrophy of the breast with gigantomastia in peripubertal females.

ORPHA:238744

Classification level: Disorder
  • Synonym(s):
    • MDN syndrome
    • Onycho-digito-mammary syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.2
  • OMIM: 613689
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

Further information on this disease

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