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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
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1 P r e s e n t a t i o n
2 E t i o l o g y
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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
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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
Fine–Lubinsky syndrome Specialty Medical genetics Symptoms facial dysmorphy, global developmental and speech delay, and ocular, behavioural and hearing problems. Usual onset Birth Duration Life-long Causes Autosomal recessive genetic mutation Prevention none Frequency extremely rare
Fine–Lubinsky syndrome is a rare genetic disorder which is characterized by ocular and hearing problems, speech and developmental delay, short stature, intellectual disabilities and facial dysmorphisms.[1]
Presentation [ edit ]
Symptoms may vary from person to person, but they generally are (but are not limited to):[2] [3] [4]
Intellectual disabilities of varying degree
Congenital hearing loss
Congenital cataracts and/or glaucoma
Brachycephaly
Brain abnormalities (often leading to behavioral problems)
Finger abnormalities
Cleft palate
Flat face
Ptosis
Long philtrum
Small mouth
Short nose
Microstomia
Scrotum hypoplasia
Etiology [ edit ]
Although most cases of Fine–Lubinsky syndrome are sporadic, a case report of two siblings with this syndrome was published, suggesting that it is caused by autosomal recessive mutations in the MAF gene.[5]
References [ edit ]
^ "Fine-Lubinsky syndrome" . Rare Disease InfoHub .
^ "Orphanet: Aymé Gripp syndrome" .
^ "Fine-Lubinsky syndrome - About the Disease - Genetic and Rare Diseases Information Center" .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Fine–Lubinsky_syndrome&oldid=1211723064 " C a t e g o r i e s : ● R a r e g e n e t i c s y n d r o m e s ● S y n d r o m e s w i t h i n t e l l e c t u a l d i s a b i l i t y ● S y n d r o m e s w i t h s h o r t s t a t u r e ● H e a r i n g l o s s w i t h c r a n i o f a c i a l s y n d r o m 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 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 4 M a r c h 2 0 2 4 , a t 0 2 : 3 0 ( 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
