J u m p t o c o n t e n t
M a i n m e n u
M a i n m e n u
N a v i g a t i o n
● M a i n p a g e ● C o n t e n t s ● C u r r e n t e v e n t s ● R a n d o m a r t i c l e ● A b o u t W i k i p e d i a ● C o n t a c t u s ● D o n a t e
C o n t r i b u t e
● H e l p ● L e a r n t o e d i t ● C o m m u n i t y p o r t a l ● R e c e n t c h a n g e s ● U p l o a d f i l e
S e a r c h
Search
A p p e a r a n c e
● C r e a t e a c c o u n t ● L o g i n
P e r s o n a l t o o l s
● C r e a t e a c c o u n t ● L o g i n
P a g e s f o r l o g g e d o u t e d i t o r s l e a r n m o r e ● C o n t r i b u t i o n s ● T a l k
( T o p )
1 S i g n s a n d s y m p t o m s
2 C a u s e s
3 E p i d e m i o l o g y
4 R e f e r e n c e s
T o g g l e t h e t a b l e o f c o n t e n t s
M e a c h a m s y n d r o m e
2 l a n g u a g e s
● D e u t s c h ● മ ല യ ാ ള ം
E d i t l i n k s
● A r t i c l e ● T a l k
E n g l i s h
● R e a d ● E d i t ● V i e w h i s t o r y
T o o l s
T o o l s
A c t i o n s
● R e a d ● E d i t ● V i e w h i s t o r y
G e n e r a l
● W h a t l i n k s h e r e ● R e l a t e d c h a n g e s ● U p l o a d f i l e ● S p e c i a l p a g e s ● P e r m a n e n t l i n k ● P a g e i n f o r m a t i o n ● C i t e t h i s p a g e ● G e t s h o r t e n e d U R L ● D o w n l o a d Q R c o d e ● W i k i d a t a i t e m
P r i n t / e x p o r t
● D o w n l o a d a s P D F ● P r i n t a b l e v e r s i o n
A p p e a r a n c e
F r o m W i k i p e d i a , t h e f r e e e n c y c l o p e d i a
Meacham syndrome is a rare genetic disorder which is characterized by lung, diaphragmatic and genitourinary anomalies.[1]
Signs and symptoms [ edit ]
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.[2] [3]
Additional symptoms include neoplasm , cryptorchidism , ventricular septal defect , atrial septal defect , hernia , patent ductus arteriosus , Tetralogy of Fallot , and penile hypoplasia .[4]
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.[5]
Epidemiology [ edit ]
According to OMIM,[6] [7] [8] [9] [10]
References [ edit ]
^ "Orphanet: Meacham syndrome" . www.orpha.net . Retrieved 2022-06-29 .
^ "Meacham Syndrome" . www.mendelian.co . 2022-06-29. Retrieved 2022-06-29 .
^ Suri, Mohnish; Kelehan, Peter; O'neill, David; Vadeyar, Shantala; Grant, Judith; Ahmed, S. Faisal; Tolmie, John; McCann, Emma; Lam, Wayne; Smith, Shirley; Fitzpatrick, David (2007-10-01). "WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations" . American Journal of Medical Genetics. Part A . 143A (19 ): 2312–2320. doi :10.1002/ajmg.a.31924 . ISSN 1552-4825 . PMID 17853480 . S2CID 20548643 .
^ "OMIM Entry - # 608978 - Meacham Syndrome" . www.omim.org . Retrieved 2022-06-29 .
^ Meacham, L. R.; Winn, K. J.; Culler, F. L.; Parks, J. S. (1991-12-15). "Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype" . American Journal of Medical Genetics . 41 4 ): 478–481. doi :10.1002/ajmg.1320410420 . ISSN 0148-7299 . PMID 1844355 .
^ "OMIM Entry - # 608978 - Meacham Syndrome" . www.omim.org . Retrieved 2022-06-29 .
^ Killeen, Orla G.; Kelehan, Peter; Reardon, William (2002-01-01). "Double vagina with sex reversal, congenital diaphragmatic hernia, pulmonary and cardiac malformations--another case of Meacham syndrome" . Clinical Dysmorphology . 11 1 ): 25–28. doi :10.1097/00019605-200201000-00005 . ISSN 0962-8827 . PMID 11822701 .
^ Suri, Mohnish; Kelehan, Peter; O'neill, David; Vadeyar, Shantala; Grant, Judith; Ahmed, S. Faisal; Tolmie, John; McCann, Emma; Lam, Wayne; Smith, Shirley; Fitzpatrick, David (2007-10-01). "WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations" . American Journal of Medical Genetics. Part A . 143A (19 ): 2312–2320. doi :10.1002/ajmg.a.31924 . ISSN 1552-4825 . PMID 17853480 . S2CID 20548643 .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Meacham_syndrome&oldid=1179687049 " C a t e g o r i e s : ● G e n e t i c s y n d r o m e s ● R a r e g e n e t i c s y n d r o m e s ● C o n g e n i t a l d i s o r d e r s o f u r i n a r y s y s t e m ● C o n g e n i t a l d i s o r d e r s o f r e s p i r a t o r y s y s t e m ● C o n g e n i t a l d i s o r d e r s o f g e n i t a l o r g a n s ● S y n d r o m e s a f f e c t i n g t h e r e s p i r a t o r y s y s t e m H i d d e n c a t e g o r i e s : ● A r t i c l e s w i t h s h o r t d e s c r i p t i o n ● S h o r t d e s c r i p t i o n i s d i f f e r e n t f r o m W i k i d a t a
● T h i s p a g e w a s l a s t e d i t e d o n 1 1 O c t o b e r 2 0 2 3 , a t 1 9 : 3 7 ( U T C ) . ● T e x t i s a v a i l a b l e u n d e r t h e C r e a t i v e C o m m o n s A t t r i b u t i o n - S h a r e A l i k e L i c e n s e 4 . 0 ;
a d d i t i o n a l t e r m s m a y a p p l y . B y u s i n g t h i s s i t e , y o u a g r e e t o t h e T e r m s o f U s e a n d P r i v a c y P o l i c y . W i k i p e d i a ® i s a r e g i s t e r e d t r a d e m a r k o f t h e W i k i m e d i a F o u n d a t i o n , I n c . , a n o n - p r o f i t o r g a n i z a t i o n . ● P r i v a c y p o l i c y ● A b o u t W i k i p e d i a ● D i s c l a i m e r s ● C o n t a c t W i k i p e d i a ● C o d e o f C o n d u c t ● D e v e l o p e r s ● S t a t i s t i c s ● C o o k i e s t a t e m e n t ● M o b i l e v i e w
