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 G e n e t i c s
3 D i a g n o s i s
4 E p i d e m i o l o g y
5 R e f e r e n c e s
6 E x t e r n a l l i n k 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
B a r b e r – S a y s y n d r o m e
5 l a n g u a g e s
● ا ل ع ر ب ي ة ● D e u t s c h ● Ε λ λ η ν ι κ ά ● F r a n ç a i s ● I t a l i a n o
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
Barber Say syndrome Other names Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome Barber-Say syndrome has an autosomal dominant pattern of inheritance Usual onset Neonatal
Barber-Say syndrome (BSS) is a very rare congenital disorder associated with excessive hair growth (hypertrichosis ), fragile (atrophic ) skin, eyelid deformities (ectropion ), and an overly broad mouth (macrostomia ).[1]
Barber-Say syndrome is phenotypically similar to Ablepharon macrostomia syndrome , which is also associated with dominant mutations in TWIST2 .[2]
Signs and symptoms [ edit ]
Severe hypertrichosis, especially of the back
Skin abnormalities, including hyperlaxity and redundancy
Facial dysmorphism, including macrostomia
Eyelid deformities
Abnormal and low-set ears
Bulbous nasal tip with hypoplastic alae nasi
Low frontal hairline
Genetics [ edit ]
Multiple cases of parent-to-child transmission suggest that Barber-Say syndrome exhibits autosomal dominant inheritance.[3] TWIST2 basic helix-loop-helix transcription factor that binds to E-box DNA motifs (5'-CANNTG-3') as a heterodimer and inhibits transcriptional activation.[4] [5] [6] [2]
Diagnosis [ edit ]
This section is empty. You can help by
adding to it .
(September 2021 )
Epidemiology [ edit ]
The prevalence of Barber Say syndrome is less than 1 in 1,000,000.[7] [8]
References [ edit ]
^ Online Mendelian Inheritance in Man (OMIM): BARBER-SAY SYNDROME; BBRSAY - 209885
^ Universal protein resource accession number Q8WVJ9 for『TWIST2 – Twist-related protein 2 – Homo sapiens (Human) – TWIST2 gene & protein 』at UniProt .
^ Isenmann S, Arthur A, Zannettino AC, Turner JL, Shi S, Glackin CA, Gronthos S (October 2009). "TWIST family of basic helix-loop-helix transcription factors mediate human mesenchymal stem cell growth and commitment" . Stem Cells . 27 10 ): 2457–68. doi :10.1002/stem.181 PMID 19609939 . S2CID 5353857 .
^ Lee MS, Lowe G, Flanagan S, Kuchler K, Glackin CA (November 2000). "Human Dermo-1 has attributes similar to twist in early bone development". Bone . 27 5 ): 591–602. doi :10.1016/S8756-3282(00 )00380-X . PMID 11062344 .
^ "Orphanet: Barber Say syndrome" . www.orpha.net . January 2014. Retrieved 2019-01-21 .
^ Yohannan MD, Hilgeman J, Allsbrook K (July 2017). "TWIST2 gene mutation" . Clinical Case Reports . 5 7 ): 1167–1169. doi :10.1002/ccr3.1014 . PMC 5494409 PMID 28680619 .
External links [ edit ]
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Barber–Say_syndrome&oldid=1176964616 " 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 ● R a r e g e n e t i c s y n d r o m e s ● I n t e r s e x v a r i a t i o n 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 r t i c l e s t o b e e x p a n d e d f r o m S e p t e m b e r 2 0 2 1 ● A l l a r t i c l e s t o b e e x p a n d e d ● A r t i c l e s w i t h e m p t y s e c t i o n s f r o m S e p t e m b e r 2 0 2 1 ● A l l a r t i c l e s w i t h e m p t y s e c t i o n s ● A r t i c l e s u s i n g s m a l l m e s s a g e b o x 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 2 5 S e p t e m b e r 2 0 2 3 , a t 0 2 : 1 9 ( 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
![[icon]](https://akarinohon.com/text/taketori.cgi/en.wikipedia.org/wiki/File:Wiki_letter_w_cropped.svg){kind=small}
