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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
Feingold syndrome (also called oculodigitoesophagoduodenal syndrome ) is a rare autosomal dominant hereditary disorder . It is named after Murray Feingold , an American physician who first described the syndrome in 1975. Until 2003, at least 79 patients have been reported worldwide.[1]
Presentation [ edit ]
Feingold syndrome is marked by various combinations of microcephaly , limb malformations , esophageal and duodenal atresias . Cognition is affected, and ranges from below-average IQ to mild intellectual disability .[2]
Genetics [ edit ]
Feingold syndrome is caused by mutations in the neuroblastoma-derived V-myc avian myelocytomatosis viral-related oncogene (MYCN) which is located on the short arm of chromosome 2 (2p24.1). This syndrome has also been linked to microdeletions in the MIR17HG locus which encodes a micro RNA cluster known as miR-17/92.[3]
Diagnosis [ edit ]
The diagnosis is based on the following clinical findings:[citation needed ]
Treatment [ edit ]
There is no known treatment for the disorder, but surgery for malformations, special education, and treatment of hearing loss are important.[4]
References [ edit ]
^ Marcelis, Carlo L. M.; Hol, Frans A.; Graham, Gail E.; Rieu, Paul N. M. A.; Kellermayer, Richard; Meijer, Rowdy P. P.; Lugtenberg, Dorien; Scheffer, Hans; Bokhoven, Hans van (2008). "Genotype–phenotype correlations in MYCN-related Feingold syndrome" . Human Mutation . 29 (9 ): 1125–1132. doi :10.1002/humu.20750 . ISSN 1098-1004 . PMID 18470948 .
^ "Feingold Syndrome 1 | Hereditary Ocular Diseases" . disorders.eyes.arizona.edu . Retrieved 2019-10-07 .
External links [ edit ]
t
e
(1 ) Basic domains
(2 ) Zinc finger DNA-binding domains
(3 ) Helix-turn-helix domains
(4 ) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
Ungrouped
Transcription coregulators
Coactivator:
Corepressor:
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Feingold_syndrome&oldid=1215533411 "
C a t e g o r i e s :
● A u t o s o m a l d o m i n a n t d i s o r d e r s
● S y n d r o m e s w i t h m i c r o c e p h a l y
● T r a n s c r i p t i o n f a c t o r d e f i c i e n c i e s
● S y n d r o m e s a f f e c t i n g t h e g a s t r o i n t e s t i n a l t r a c t
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 a r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s
● A r t i c l e s w i t h u n s o u r c e d s t a t e m e n t s f r o m S e p t e m b e r 2 0 2 1
● T h i s p a g e w a s l a s t e d i t e d o n 2 5 M a r c h 2 0 2 4 , a t 1 8 : 1 4 ( 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 .
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