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Mayer-Rokitansky-Küster-Hauser syndrome type 2

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Name:
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Description:
A form of Mayer-Rokitansky-Küster-Hauser syndrome, characterized by congenital aplasia of the uterus and upper two-thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects.
ORPHAcode:
2578
Synonyms:
Atypical MRKH syndrome
MRKH syndrome type 2
MURCS association
Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
HNF1B
WNT4
Created:
26 Oct 2023 - 23:49
Changed:
22 Jun 2023 - 16:14