Mullerian aplasia: A birth defect involving the absence of the uterus, cervix and top part of the vagina but normal external genitals and ovarian function. Secondary sexual characteristics generally develop normally but menstruation is absent. More detailed information about the symptoms, causes, and treatments of Mullerian aplasia is available below.
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Mullerian aplasia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Mullerian aplasia, or a subtype of Mullerian aplasia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Mullerian aplasia as a "rare disease".
Source - Orphanet
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