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
D i a g n o s i s
2
P r e v a l e n c e
3
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
S c h i m k e s y n d r o m e
A d d l a n g u a g e s
A d d 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
Schimke syndrome Other names
Spondyloepiphyseal dysplasia nephrotic syndrome
Immunoosseous dysplasia, SIOD
Schimke immuno-osseous dysplasia [1]
Schimke syndrome is a rare autosomal recessive disorder .[2]
The disorder was first described in 1971 by Schimke.[3]
Diagnosis [ edit ]
Most people with this disorder are diagnosed at age 6.[4]
Tests for mutations in the SMARCAL1 can confirm the diagnosis.[5]
Prevalence [ edit ]
The exact prevalence is unknown but is said to occur in 1 in a million births in North America.[5]
The disorder is said to occur in 1 in 1 million or 1 in 3 million people in North America .[6]
References [ edit ]
^ Sullivan, Kathleen E.; Stiehm, E. Richard (2014-08-08). Stiehm's Immune Deficiencies . Academic Press. p. 185. ISBN 978-0-12-405860-6 .
^ "Schimke Immuno-osseous Dysplasia (SIOD) - Stanford Children's Health" . www.stanfordchildrens.org . Retrieved 2021-09-09 .
^ a b "Schimke Immuno-Osseous Dysplasia" . NORD (National Organization for Rare Disorders) . Retrieved 2021-09-09 .
^ "Schimke immuno-osseous dysplasia: MedlinePlus Genetics" . medlineplus.gov . Retrieved 2021-07-11 .
t
e
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Schimke_syndrome&oldid=1180218761 "
C a t e g o r i e s :
● A u t o s o m a l r e c e s s i v e d i s o r d e r s
● G e n e t i c d i s o r d e r s t u b s
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
● A l l s t u b a r t i c l e s
● T h i s p a g e w a s l a s t e d i t e d o n 1 5 O c t o b e r 2 0 2 3 , a t 0 6 : 2 8 ( 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