CHARGE syndrome


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Related to CHARGE syndrome: VATER syndrome

CHARGE association

acronym denoting a particular grouping of congenital anomalies found together more frequently than otherwise expected. Affected patients have coloboma of the eye, heart defects (typically tetralogy of Fallot, patent ductus arteriosus, or ventricular or atrial septal defect), atresia of the choanae, renal anomalies and retardation of growth and/or development, genital anomalies in males such as small penis or cryptorchidism, and ear abnormalities or deafness.
Synonym(s): CHARGE syndrome

CHARGE syndrome

(charj) [Acronym for c(oloboma), h(eart defects), a(tresia), r(etardation), g(enital), e(ar)]
A rare X-linked congenital syndrome characterized by the presence of coloboma, structural heart defects, choanal atresia, growth retardation, genital hypoplasia, and abnormal ear development with deafness.
References in periodicals archive ?
His chest X-ray was normal, other investigation like; septic markers, Complete blood count, C-reactive protein and blood culture were also sent and provisional diagnosis of CHARGE Syndrome was made.
The Halloween Charity Ball is being held on October 26 at St John's Hotel in Solihull in aid of Charge Syndrome UK and The Solihull Down Syndrome Support Group.
My dad checked Dylan's symptoms on the internet and thought he might have CHARGE syndrome - and the doctors agreed.
CHARGE syndrome is one relatively newly described complex developmental syndrome.
Keywords: attachment, CHARGE syndrome, intellectual disability, mental retardation, parenting, psychiatric, stress
Madison listened to every word as her parents went on to talk about the CHARGE Syndrome Foundation, which works to find the myriad causes of severe birth defects, and which is holding its biennial conference in Los Angeles next year.
Due to speak at the conference was 16-year-old Zara-Jayne Arnold from London, who has CHARGE syndrome and could almost claim to be an old friend of the Princess.
Freya has charge syndrome which means she is deaf and blind and has CHD along with development and growth problems.
Those with CHARGE syndrome have a wide range of cognitive functioning, and some contend that intelligence is often underestimated due to communication barriers or the use of inappropriate assessments (Hartshorne et al.
Alun Williams, from St Athan, Vale of Glamorgan, got involved as a way to say thank you for the support the charity gave him when his 16-month-old daughter Elis died from a condition called CHARGE syndrome.
The 17-year-old has the onein-10,000 condition CHARGE syndrome, which affects his brain's communication with the rest of his body.
Eoin - who has Charge syndrome, a collection of disabilities which also affects his heart - told mum Marie: "Belfast gave me the chance of my life when I was a baby and I want other babies to have that chance as well.