Müllerian duct anomalies-limb anomalies syndrome
ORPHA:2491· ICD-10 Q87.8
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.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Neonatal