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Müllerian duct anomalies-limb anomalies syndrome

Disease definition

A rare disorder characterized by the association of mullerian duct and distal limb anomalies. Females present with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males present with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand.

ORPHA:2491

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: 146160
  • UMLS: C1840335
  • MeSH: -
  • GARD: 2908
  • MedDRA: -
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