Charge Association

Abstract

The CHARGE association is a nonrandom occurrence of congenital malformations including coloboma, congenital heart defects, choanal atresia, retardation of growth, developmental delay, genital abnormalities, ear abnormalities, and deafness. The cause remains unknown. Various genetic mechanisms have been proposed, but there has not been any consistent cytogenetic or molecular defect described. Most cases are sporadic.

Unnoticed post‐void residual urine volume in people with moderate to severe intellectual disabilities: prevalence and risk factors

“…Not only medication (tricyclic antidepressant drugs, antipsychotic drugs and carbamazepin), but also differences in anatomy might be possible causes of PVR in this population. Anatomical differences have been described in many syndromes, like genital dysmorphia [CHARGE Association (Oley 2005), Cornelia de Lange syndrome (Fitzpatrick & Kline 2005)], Smith‐Lemli‐Opitz syndrome (Cunnif & Grebe 2005), bladder diverticula [Williams syndrome (Schulman et al. 1996)], urethra valves [Down syndrome (Mercer et al.…”

“…Not only medication (tricyclic antidepressant drugs, antipsychotic drugs and carbamazepin), but also differences in anatomy might be possible causes of PVR in this population. Anatomical differences have been described in many syndromes, like genital dysmorphia [CHARGE Association (Oley 2005), Cornelia de Lange syndrome (Fitzpatrick & Kline 2005)], Smith-Lemli-Opitz syndrome (Cunnif & Grebe 2005), bladder diverticula [Williams syndrome (Schulman et al 1996)], urethra valves [Down syndrome (Mercer et al 2004)] and deviant ureter implant [ATR-X syndrome (Gibbons 2005), Bardet-Biedl syndrome (Slavotinek 2005), Cornelia de Lange syndrome (Fitzpatrick & Kline 2005)]. Also lack of recognition of or responding to a sensation might be a cause, especially when accompany problems occur like vesico-urethral reflux (flank pain), UTI, bladder grit or stones.…”

Insights Regarding Optometric Findings of CHARGE Syndrome in a Pediatric Low Vision Clinic

“…Originally named in reference to common findings, CHARGE syndrome is a multisystem genetic condition with an estimated incidence of 0.1 to 1.2/10,000 live births. The six findings related to CHARGE are the following: coloboma, heart defects, atresia or stenosis of the choanae, delayed development and/or growth, genital hypoplasia, and ear anomalies 1,2 . CHARGE syndrome is most commonly caused by mutations to the CHD7 gene, which regulates chromatin organization and plays a role in neural crest development 1–3 .…”

“…The six findings related to CHARGE are the following: coloboma, heart defects, atresia or stenosis of the choanae, delayed development and/or growth, genital hypoplasia, and ear anomalies 1,2 . CHARGE syndrome is most commonly caused by mutations to the CHD7 gene, which regulates chromatin organization and plays a role in neural crest development 1–3 . Abnormalities in neural crest–derived tissues result in the associated findings 1–3 .…”

“…Several reports have examined the percentage of patients affected by each associated finding. Oley 1 cites a range for each. These include coloboma (80 to 90%), heart defects (65 to 80%), atresia or stenosis of choanae (55 to 85%), delayed growth (70 to 85%), delayed development (60 to 100%), genital hypoplasia (53 to 100%), and ear anomalies and/or deafness (85 to 100%).…”