CHARGE syndrome information

CHARGE syndrome (formerly known as CHARGE association) is a rare syndrome caused by a genetic disorder. First described in 1979, the acronym "CHARGE" came...

as Down syndrome.[citation needed] Until 2005, CHARGE syndrome was most frequently referred to as "CHARGE association". When the major causative gene (CHD7)...

Syndromic autism (or syndromic autism spectrum disorders) denotes cases of autism spectrum disorder that are associated with a broader medical condition...

Charge, the air and fuel mixture fed into an internal combustion engine CHARGE syndrome, a specific set of birth defects in children Explosive charge...

gene mutation. CHARGE syndrome is rare, and caused by a genetic disorder. The acronym comes from the features associated with CHARGE syndrome which are as...

deletion syndrome 22q11.2 duplication syndrome 22q13 deletion syndrome 2p15-16.1 microdeletion syndrome 2q37 deletion syndrome 3-M syndrome 3C syndrome 3q29...

DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms...

Other ocular malformations that include coloboma or are related to it: CHARGE syndrome, a term that came into use as an acronym for the set of unusual congenital...

trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. This protein belongs to a larger group of ATP-dependent chromatin...

isolated congenital asplenia (ICAS), and Bowen–Conradi syndrome (BWCNS), CHARGE syndrome and ANE syndrome (ANES). The associated chromosome, OMIM genotype,...

myopathy) Central core disease CHARGE syndrome Cohen syndrome Costello syndrome Dejerine–Sottas disease (HMSN Type III) Down syndrome a.k.a. trisomy 21 — most...

Development VACTERL Association Apert Syndrome CHARGE Syndrome Currarino Syndrome Pierre Robin Sequence Prune Belly Syndrome William E. Ladd; known as the father...

Patau syndrome, mosaic trisomy 9, 13q deletion syndrome, Wolf–Hirschhorn syndrome) or monogenetic Mendelian disorders (e.g. CHARGE syndrome, Fraser...

uremic syndrome. Baller–Gerold syndrome CHARGE syndrome Currarino syndrome DiGeorge syndrome Fanconi anemia Feingold syndrome Fryns syndrome MURCS association...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

neurofibromatosis type I, CHARGE syndrome, familial dysautonomia, DiGeorge syndrome, Axenfeld-Rieger syndrome, Goldenhar syndrome (a.k.a. hemifacial microsomia)...

dysautonomia, CHARGE syndrome, Ehlers–Danlos syndrome (hyperflexibility, "floppy baby" syndrome, and other variants of the condition), fragile X syndrome, Friedreich's...

Amok syndrome is an aggressive dissociative behavioral pattern derived from Indonesia and Malaysia that led to the English phrase running amok. The word...

thymus at an early age through genetic mutation (as in DiGeorge syndrome, CHARGE syndrome, or a very rare "nude" thymus causing absence of hair and the...

hemangiomatosis Brachial plexus injury Bronchopulmonary dysplasia Cerebral palsy CHARGE syndrome Cleft palate Coarctation of the aorta Congenital adrenal hyperplasia...

Bartter syndrome (BS) is a rare inherited disease characterised by a defect in the thick ascending limb of the loop of Henle, which results in low potassium...

CHARGE syndrome Cochleosaccular degeneration with progressive cataracts Down syndrome Marshall syndrome Congenital rubella syndrome Stickler syndrome...

at birth:[citation needed] Turner syndrome and Klinefelter syndrome. It is also one of the signs of CHARGE syndrome. Examples of acquired causes of...

Wonderland syndrome (AIWS), also known as Todd's syndrome or dysmetropsia, is a neurological disorder that distorts perception. People with this syndrome may...

with Mojave 3. In 2010 Goswell gave birth to a son, Jesse, who has CHARGE syndrome; Jesse is profoundly deaf and has a serious heart condition which resulted...

immune dysfunction syndrome CFS Chronic fatigue syndrome CGBD Corticobasal ganglionic degeneration CH Cluster headache CHARGE syndrome Coloboma of the eye...

deletion syndrome 5q- syndrome in myelodysplastic syndrome (MDS) 22q11.2 deletion syndrome CHARGE syndrome Cleidocranial dysostosis Ehlers–Danlos syndrome Frontotemporal...

(would also present with other heart defects), Wiedemann–Steiner syndrome, and CHARGE syndrome. Fetal Alcohol Spectrum Disorder PDA is usually diagnosed using...