CHARGE syndrome is a rare disorder that arises during early fetal development and affects multiple organ systems. The term CHARGE comes from the first letter of some of the more common features seen in these children: (C) = coloboma (usually retinochoroidal) and cranial nerve defects (80-90%)(H) = heart defects in 75-85%, especially tetralogy of Fallot(A) = atresia of the choanae (blocked nasal breathing passages) (50-6  Read More

Chromosome 10, monosomy 10p is a rare chromosomal disorder in which the end (distal) portion of the short arm (p) of chromosome 10 is missing (deleted or monosomic). The range and severity of symptoms and findings may be variable, depending upon the exact size or location of the deletion on chromosome 10p. However, associated features often include severe intellectual disability; growth delays after birth (postnatal growth retardation); distin  Read More

Symptoms and Signs of tas midline defect The detailed clinical manifestations of Cantrell's pentalogy can vary greatly from person to person. Some newborns could have mild defects due to the disorder's incomplete expression. Other babies may face life-threatening complications. 1. The most severe form of Cantrell pentalogy manifests at birth with ectopia cordis and omphalocele. Ectopia Cordis is a serious co  Read More