Congenital abnormality characterized by mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia (MURCS) in female patients; males may exhibit renal and genital abnormalities, as well as AZOOSPERMIA. Patients may also present with MIDDLE-EAR abnormalities. Molecular basis is unknown. OMIM: 601076
Also Known As:
Congenital absence of uterus and vagina; Klippel-Feil deformity, conductive deafness, and absent vagina; MRK anomaly; MRKH Syndrome; MRKH anomaly; MRKH, Type II; MURCS association; Mayer Rokitansky Kuster Hauser syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome; Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II; Muellerian aplasia; Mullerian Aplasia-Dysgenesis; Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies; Mullerian duct failure; RKH syndrome; Rokitansky Kuster Hauser syndrome; Rokitansky sequence; Uterus bipartitus solidus rudimentarius cum vagina solida; Von Mayer Rokitansky Kuster anomaly; Von Mayer-Rokitansky-Kuster Anomaly