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Müllerian duct anomalies - limb anomalies

Orpha number ORPHA2491
Synonym(s) -
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • Q87.8
ICD-O -
OMIM
UMLS
  • C1840335
MeSH -
MedDRA -

Summary

This syndrome is characterised by the association of mullerian duct and distal limb anomalies. It has been described in five individuals from one family. Females presented with anomalies ranging from a vaginal septum to complete duplication of uterus and vagina, and males presented with micropenis. The limb anomalies varied from postaxial polydactyly to severe upper limb hypoplasia with split hand. The mode of transmission is autosomal dominant.


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