Conditions / Syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome type 1
info · Syndrome
A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype.
Signs and symptoms
- Aplasia of the vagina
- Hematocolpos
- Downslanted palpebral fissures
- Hypoplasia of the uterus
- Reduced renal corticomedullary differentiation
- Aplasia of the uterus
- Aplasia of the upper vagina
- Renal medullary hyperechogenicity
- Renal cyst
- Unicornuate uterus
Also known as: MRKH syndrome type 1; Rokitansky sequence; congenital absence of uterus and vagina