Disease Profile

Meacham Winn Culler syndrome

Prevalence ?
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of Onset






Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease


Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype


X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder


Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.


Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other Names (AKA)

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


Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;


The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 3097

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

Less than 15 patients have been reported worldwide.

Clinical description
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.

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 (see this term).

Diagnostic methods
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 (see these terms).

Management and treatment
Management is supportive.

All patients reported to date died in early childhood.

Visit the Orphanet disease page for more resources.


This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Abnormal fallopian tube morphology
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

Aplasia/Hypoplasia of the lungs
Absent/small lungs
Absent/underdeveloped lungs

[ more ]

Congenital diaphragmatic hernia
Vaginal atresia
Abnormally closed or absent vagina
30%-79% of people have these symptoms
Undescended testes
Undescended testis

[ more ]

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
Hole in heart wall separating two upper heart chambers

[ more ]

Coarctation of aorta
Narrowing of aorta
Narrowing of the aorta

[ more ]

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

Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Meacham Winn Culler syndrome. Click on the link to view a sample search on this topic.