Orphanet: Müllerian duct anomalies limb anomalies syndrome

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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.

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Müllerian duct anomalies-limb anomalies syndrome

ORPHA:2491

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