Meacham syndrome

Meacham syndrome

A rare, sporadic, multiple malformation syndrome (OMIM:608978) characterised by male pseudohermaphroditism with abnormal internal female genitalia, comprising a uterus and double or septate vagina, complex congenital heart and diaphragmatic defects.

Molecular pathology
Caused by defects of WTI, which encodes a transcription factor that plays an essential role in the normal development of the urogenital system.