Meacham syndrome
| Meacham syndrome | |
|---|---|
| Other names | Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype, Meacham Winn Culler syndrome |
Genetic mutation | |
| Prognosis | Poor to Medium |
| Frequency | Rare, only 12 cases have been reported |
Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.[1]
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
duplication of the vagina. In some cases, karyotype is needed to know the biological sex of the baby.[2][3]
Additional symptoms include neoplasm, cryptorchidism, ventricular septal defect, atrial septal defect, hernia, patent ductus arteriosus, Tetralogy of Fallot, and penile hypoplasia.[4]
Causes
This condition is caused by an autosomal dominant
WT1 gene, in chromosome 11. This was found through two half-siblings reported by Suri et al.[5]
Epidemiology
According to OMIM,[6] only 12 cases have been described in medical literature.[7][8][9][10]
References
- ^ "Meacham Winn Culler syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2023-01-04. Retrieved 2022-06-29.
- ^ "OMIM Clinical Synopsis - #608978 - Meacham Syndrome". omim.org. Retrieved 2022-06-29.
- ^ "Orphanet: Meacham syndrome". www.orpha.net. Retrieved 2022-06-29.
- ^ "Meacham Syndrome". www.mendelian.co. 2022-06-29. Retrieved 2022-06-29.
- S2CID 20548643.
- ^ "OMIM Entry - # 608978 - Meacham Syndrome". www.omim.org. Retrieved 2022-06-29.
- PMID 1844355.
- ^ "OMIM Entry - # 608978 - Meacham Syndrome". www.omim.org. Retrieved 2022-06-29.
- PMID 11822701.
- S2CID 20548643.