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Cleft palate-short stature-vertebral anomalies syndrome Other names Mathieu-De Broca-Bony syndrome Specialty Medical genetics Symptoms Vertebral anomalies, intellectual disabilities, short stature, cleft palate Usual onset Birth Duration Life-long Causes Autosomal dominant inheritance Prevention none Prognosis Good Frequency very rare, only 2 cases from one family have been recorded in medical literature
Cleft palate short stature vertebral anomalies , also known as Mathieu-De Broca-Bony syndrome , is a very rare multi-systemic genetic disorder which is characterized by congenital cleft palate , facial dysmorphisms , short stature and neck, vertebral abnormalities and intellectual disabilities .[1] [2] [3]
Presentation [ edit ]
People with this disorder usually show the following symptoms:[4] [5]
Etiology [ edit ]
This disorder was first discovered in 1993 by M Mathieu et al. , when they described an adult man and his (also affected) son with the symptoms mentioned above, since then, no other cases of the disorder have been described in medical literature.[6]
References [ edit ]
^ "Cleft palate with short stature and vertebral anomaly syndrome (Concept Id: C4304704) - MedGen - NCBI" . www.ncbi.nlm.nih.gov . Retrieved 2022-05-19 .
^ "Cleft palate short stature vertebral anomalies - About the Disease - Genetic and Rare Diseases Information Center" . rarediseases.info.nih.gov . Retrieved 2022-05-19 .
^ RESERVADOS, INSERM US14-- TODOS LOS DERECHOS. "Orphanet: Syndrome de Mathieu De Broca Bony" . www.orpha.net (in Spanish). Retrieved 2022-05-19 . {{cite web }}: CS1 maint: numeric names: authors list (link )
^ Mathieu, M.; De Broca, A.; Bony, H.; Piussan, C. (1993). "A familial syndrome with micrognathia, cleft palate, short neck and stature, vertebral anomalies and mental retardation" . Genetic Counseling (Geneva, Switzerland) . 4 4 ): 299–303. ISSN 1015-8146 . PMID 8110419 .
R e t r i e v e d f r o m " https://en.wikipedia.org/w/index.php?title=Cleft_palate_short_stature_vertebral_anomalies_syndrome&oldid=1110916529 " 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 c l e f t l i p a n d / o r p a l a t e ● 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 ● 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 H i d d e n c a t e g o r i e s : ● C S 1 m a i n t : n u m e r i c n a m e s : a u t h o r s l i s t ● C S 1 S p a n i s h - l a n g u a g e s o u r c e s ( es ) ● 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 m a t c h e s 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 8 S e p t e m b e r 2 0 2 2 , a t 1 0 : 0 5 ( 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
