Other Names for this Disease
- Congenital absence of the uterus and vagina
- Genital renal ear syndrome
- GRES syndrome
- Mayer Rokitansky Kuster Hauser syndrome
Some women with MRKH syndrome have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals may also develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.
The Human Phenotype Ontology provides the following list of signs and symptoms for Mayer-Rokitansky-Kuster-Hauser syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.
|Signs and Symptoms||Approximate number of patients (when available)|
|Aplasia of the vagina||-|
|Autosomal dominant inheritance||-|
|Autosomal recessive inheritance||-|
|Hypoplasia of the uterus||-|
The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.
The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.
Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
- Mayer-Rokitansky-Küster-Hauser syndrome. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/mayer-rokitansky-kuster-hauser-syndrome. Accessed 6/13/2011.