Meacham syndrome
{{Infobox medical condition
|name = Meacham syndrome
|synonyms = Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype, Meacham Winn Culler syndrome
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|specialty = Medical genetics, Pediatry
|symptoms = Affecting the lungs, kidneys, and genitalia.
|complications = Respiratory arrest
|onset = Birth
|duration = Not applicable
|types =
|causes = Genetic mutation
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|prognosis = Poor to Medium
|frequency = Rare, only 12 cases have been reported
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Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.{{Cite web |title=Meacham Winn Culler syndrome - About the Disease - Genetic and Rare Diseases Information Center |url=https://rarediseases.info.nih.gov/diseases/3432/meacham-winn-culler-syndrome |access-date=2022-06-29 |website=rarediseases.info.nih.gov |language=en |archive-date=2023-01-04 |archive-url=https://web.archive.org/web/20230104073120/https://rarediseases.info.nih.gov/diseases/3432/meacham-winn-culler-syndrome/ |url-status=dead }}
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.{{Cite web |title=OMIM Clinical Synopsis - #608978 - Meacham Syndrome |url=https://omim.org/clinicalSynopsis/608978 |access-date=2022-06-29 |website=omim.org}}{{Cite web |title=Orphanet: Meacham syndrome |url=https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3097 |access-date=2022-06-29 |website=www.orpha.net |language=en}}
Additional symptoms include neoplasm, cryptorchidism, ventricular septal defect, atrial septal defect, hernia, patent ductus arteriosus, Tetralogy of Fallot, and penile hypoplasia.{{Cite web |date=2022-06-29 |title=Meacham Syndrome |url=http://www.mendelian.co/diseases/meacham-syndrome |access-date=2022-06-29 |website=www.mendelian.co |language=en}}
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.{{Cite journal |last1=Suri |first1=Mohnish |last2=Kelehan |first2=Peter |last3=O'neill |first3=David |last4=Vadeyar |first4=Shantala |last5=Grant |first5=Judith |last6=Ahmed |first6=S. Faisal |last7=Tolmie |first7=John |last8=McCann |first8=Emma |last9=Lam |first9=Wayne |last10=Smith |first10=Shirley |last11=Fitzpatrick |first11=David |date=2007-10-01 |title=WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations |url=https://pubmed.ncbi.nlm.nih.gov/17853480/ |journal=American Journal of Medical Genetics. Part A |volume=143A |issue=19 |pages=2312–2320 |doi=10.1002/ajmg.a.31924 |issn=1552-4825 |pmid=17853480|s2cid=20548643 }}
Epidemiology
According to OMIM,{{Cite web |title=OMIM Entry - # 608978 - Meacham Syndrome |url=https://www.omim.org/entry/608978 |access-date=2022-06-29 |website=www.omim.org |language=en-us}} only 12 cases have been described in medical literature.{{Cite journal |last1=Meacham |first1=L. R. |last2=Winn |first2=K. J. |last3=Culler |first3=F. L. |last4=Parks |first4=J. S. |date=1991-12-15 |title=Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype |url=https://pubmed.ncbi.nlm.nih.gov/1844355/ |journal=American Journal of Medical Genetics |volume=41 |issue=4 |pages=478–481 |doi=10.1002/ajmg.1320410420 |issn=0148-7299 |pmid=1844355}}{{Cite web |title=OMIM Entry - # 608978 - Meacham Syndrome |url=https://www.omim.org/entry/608978#4 |access-date=2022-06-29 |website=www.omim.org |language=en-us}}{{Cite journal |last1=Killeen |first1=Orla G. |last2=Kelehan |first2=Peter |last3=Reardon |first3=William |date=2002-01-01 |title=Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome |url=https://pubmed.ncbi.nlm.nih.gov/11822701/ |journal=Clinical Dysmorphology |volume=11 |issue=1 |pages=25–28 |doi=10.1097/00019605-200201000-00005 |issn=0962-8827 |pmid=11822701}}{{Cite journal |last1=Suri |first1=Mohnish |last2=Kelehan |first2=Peter |last3=O'neill |first3=David |last4=Vadeyar |first4=Shantala |last5=Grant |first5=Judith |last6=Ahmed |first6=S. Faisal |last7=Tolmie |first7=John |last8=McCann |first8=Emma |last9=Lam |first9=Wayne |last10=Smith |first10=Shirley |last11=Fitzpatrick |first11=David |date=2007-10-01 |title=WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations |url=https://pubmed.ncbi.nlm.nih.gov/17853480/ |journal=American Journal of Medical Genetics. Part A |volume=143A |issue=19 |pages=2312–2320 |doi=10.1002/ajmg.a.31924 |issn=1552-4825 |pmid=17853480|s2cid=20548643 }}