Some affected women have additional abnormalities. These may include skeletal abnormalities (particularly of the spine) and/or kidney abnormalities (abnormal formation or position, or absence of one kidney). Some women also have hearing loss and/or heart defects.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of female internal genitalia||90%|
|Abnormal form of the vertebral bodies||7.5%|
|Abnormal localization of kidney||7.5%|
|Abnormality of the sacrum||7.5%|
|Aplasia of the vagina||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Hypoplasia of the uterus||-|
The specific reproductive features of MRKH syndrome are due to incomplete development of the Müllerian ducts. These ducts are present in the embryo and give rise to the fallopian tubes, uterus, cervix, and upper portion of the vagina. It is unclear why some affected women have abnormalities in other parts of the body.
Individuals with MRKH syndrome who wish to have biological children may benefit from consulting with a genetics professional.
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Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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What are the effects on life expectancy? See answer
I was diagnosed with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome when I was 16 and had vaginal reconstruction surgery when I was 21. I am now about to get married and my soon-to-be-husband and I would like to explore having our own children. I have functioning ovaries and one normal kidney. Is it possible for someone with MRKH syndrome to have children of their own through a surrogate? Are my children at-risk to inherit this condition? See answer