meacham syndrome meacham syndrome meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies. meacham syndromeother namesdouble vagina, cardiac, pulmonary, and other genital malformations with 46,xy karyotype, meacham winn culler syndromespecialtymedical genetics, pediatrysymptomsaffecting the lungs, kidneys, and genitalia.complicationsrespiratory arrestusual onsetbirthdurationnot applicablecausesgenetic mutationprognosispoor to mediumfrequencyrare, only 12 cases have been reported signs and symptoms often people with this condition are born with both underdeveloped lungs and a herniated diaphragm. urinary symptoms include a horseshoe kidney genital symptoms are different according to the biological sex of the baby, genetic males (46,xy) usually have pseudohermaphroditism, ambiguous genitalia, and perineal hypospadias. genetic females (46,xx) often have septate uterus and duplication of the vagina. in some cases, karyotype is needed to know the biological sex of the baby. additional symptoms include neoplasm, cryptorchidism, ventricular septal defect, atrial septal defect, hernia, patent ductus arteriosus, tetralogy of fallot, and penile hypoplasia. causes this condition is caused by an autosomal dominant missense mutation in the wt1 gene, in chromosome 11. this was found through two half-siblings reported by suri et al. epidemiology according to omim, only 12 cases have been described in medical literature.