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Cat-eye syndrome (CES) or Schmid–Fraccaro syndrome is a rare condition caused by an abnormal extra chromosome, i.e. a small supernumerary marker chromosome. [2] This chromosome consists of the entire short arm and a small section of the long arm of chromosome 22.
Cat eye syndrome (CES), also known as Schmid-Fraccaro syndrome, is a very rare genetic disorder that’s usually evident at birth. It gets its name from the distinctive eye pattern present in...
Cat eye syndrome is a chromosome abnormality that affects many different parts of the body. The signs and symptoms of the condition vary widely but may include abnormalities of the eyes, ears, anal region, heart, and/or kidney.
Cat eye syndrome is the result of a genetic defect in chromosome 22, which causes an extra chromosome fragment. This article reviews common characteristics and symptoms of cat eye syndrome. You'll also learn the causes, diagnostic methods, treatment, and outlook for the condition.
The term “cat-eye” is used because a distinctive eye abnormality occurs in some of the affected individuals. The defect, known as coloboma, involves the partial absence of ocular tissue in...
Cat eye syndrome (CES) is a rare chromosomal disorder that may be evident at birth. Individuals with a normal chromosomal make-up have two 22nd chromosomes, both of which have a short arm, known as 22p, and a long arm, known as 22q.
Cat eye syndrome (CES) is a rare condition caused by a defect in a person’s chromosomes. The defect may result in deformities that appear in several areas of the body, including the eyes, ears, heart, skeletal system and more.
Cat eye syndrome affects the way certain parts of a baby's body are formed before they are born. Symptoms you can see include: Cleft lip or palate; Crossed eyes; Downward slant to corners of the...
Cat eye syndrome is a rare genetic condition caused by the short arm (p) and tiny region of the long arm (q) of chromosome 22 being duplicated three (trisomy) to four...
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys.