Disease & disorder

mullerian duct anomalies-limb anomalies syndrome

MONDO:0007795

Mullerian 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.

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Current registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.

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Background context

Müllerian anomalies

Müllerian duct anomalies are those structural anomalies caused by errors in Müllerian duct development as an embryo forms. Factors contributing to them include genetics and maternal exposure to substances that interfere with fetal development. Genetic causes of Müllerian duct anomalies are complicated and uncommon. Inheritance patterns can be autosomal dominant, autosomal recessive, and X-linked disorders. Müllerian anomalies can be part of a multiple malformation syndrome. Studies have estimated that Mullerian anomalies can affect between 4 percent and nearly 7 percent of the female population. Müllerian anomalies occur as a congenital malformation of the Müllerian ducts during embryogenesis. The Müllerian ducts are also referred to as paramesonephric ducts, referring to ducts next to (para) the mesonephric (Wolffian) duct during foetal development. Paramesonephric ducts are paired ducts derived from the embryo, and for females develop into the uterus, uterine tubes, cervix and upper two-thirds of the vagina. Embryogenesis of the Müllerian ducts play important roles in ensuring normal development of the female reproductive tract. However, when defects in each of the three phases of embryogenesis occur, it results in specific structural malformations which are distinguished according to anatomy into seven classes based on the American Society for Reproductive Medicine (ASRM) classification system. Class I and II anomalies result from underdevelopment of the two separate primitive uterine, vaginal and cervical pockets due to an arrest of stage one of organogenesis, result...

Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.

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Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.