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Mullerian duct anomalies-limb anomalies syndrome
rareMullerian duct anomalies-limb anomalies syndrome is characterized 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.
- Identifiers
- MONDO:0007795 OMIM:146160Orphanet:2491
- Part of
- Multiple congenital anomalies/dysmorphic syndrome without intellectual disabilityReproductive system disorderSyndromic disease
- Also known as
- hypomelia mullerian duct anomalies · limb uterus syndrome · severe upper limb hypoplasia and Mullerian duct anomalies
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