Mayer-Rokitansky-Küster-Hauser syndrome

Orpha code: 3109OMIM code: 601076

Definition

A rare spectrum of Mullerian duct anomalies characterized by congenital aplasia of the uterus and upper two-thirds of the vagina in otherwise phenotypically normal females. It can be classified as either Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome type 1 (corresponding to isolated utero-vaginal aplasia) or MRKH syndrome type 2 (utero-vaginal aplasia associated with other malformations).

Disease data
Classification

Malformation syndrome

Synonyms
MRKH syndrome
Zespół MRKH
Zespół Rokitansky'ego
Rokitansky syndrome
ORPHA code
3109
OMIM code
601076
ICD10 code
Q51.8
ICD11 code
LB44.Y

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl