Meacham syndrome

Epidemiology

rare

Pathology

• multiple malformations

Genetics

• sporadic
• associated with defects in WT1

Clinical manifestations

• male pseudohermaphroditism with abnormal internal female genitalia comprising a uterus & double or septate vagina
• complex congenital heart defect
• diaphragmatic abnormalities

Laboratory

• WT1 gene mutation

More general terms

• genetic syndrome (multisystem disorder)
• pseudohermaphroditism; indeterminate sex; gynandrism

Database

• OMIM: https://mirror.omim.org/entry/608978