Meacham Winn Culler syndrome

Other Names: Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype

Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

Epidemiology

Less than 15 patients have been reported worldwide.

Cause

Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. Mutations in the same gene have previously been detected in patients with Denys-Drash syndrome.

Signs and symptoms

Ambiguous or female external genitalia are present in individuals with 46,XY karyotype. The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects, (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported.

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Abnormal fallopian tube morphology
• Ambiguous genitalia(Ambiguous external genitalia)
• Aplasia/Hypoplasia of the lungs(Absent/small lungs)
• Congenital diaphragmatic hernia
• Vaginal atresia(Abnormally closed or absent vagina)

30%-79% of people have these symptoms

• Cryptorchidism(Undescended testes)
• Hydrometrocolpos
• Hypoplasia of penis(Underdeveloped penis)
• Hypoplastic left heart(Underdeveloped left heart)
• Pulmonary sequestration

5%-29% of people have these symptoms

• Abnormality of the spleen
• Anomalous pulmonary venous return
• Aortic valve stenosis(Narrowing of aortic valve)
• Atrial septal defect(An opening in the wall separating the top two chambers of the heart)
• Coarctation of aorta(Narrowing of aorta)
• Crossed fused renal ectopia
• Horseshoe kidney(Horseshoe kidneys)
• Patent ductus arteriosus
• Situs inversus totalis(All organs on wrong side of body)
• Tetralogy of Fallot
• Transposition of the great arteries
• Ventricular septal defect(Hole in heart wall separating two lower heart chambers)

Diagnosis

Diagnosis is based on the clinical findings. The occurrence of a true double vagina should lead the clinician to careful pulmonary and cardiac evaluation.

Differential diagnosis The main differential diagnosis comprises Denys-Drash syndrome, an allelic disorder with overlapping clinical features. Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes should also be considered .

Management and treatment

Management is supportive.

Prognosis

All patients reported to date died in early childhood.

NIH genetic and rare disease info

• NIH info on Meacham Winn Culler syndrome

Meacham Winn Culler syndrome is a rare disease.

Meacham Winn Culler syndrome Resources
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