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Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Since the branchial arches are important developmental features in a growing embryo, disturbances in their development create lasting and widespread effects. This syndrome is named after Octave Crouzon, a French physician who first described this disorder. He noted the affected patients were a mother and her daughter, implying a genetic basis.
He named the syndrome Cri du Chat because of that distinct characteristic. Cri du Chat is French for âcry of the cat.â The word âsyndromeâ means a group of symptoms that together are characteristic of a specific disorder. Cri du Chat Syndrome occurs because there is the loss of genetic material (deletion) of a portion of the short arm of one of the fifth chromosomes. Cri du Chat Syndrome is a rare genetic condition. It occurs in approximately 1:35,000 live births. Cri du Chat Syndrome is considered the most frequent deletion syndrome in humans. Cri du Chat Syndrome is also called 5p-Syndrome, 5p Minus Syndrome or 5p Deletion Syndrome. The â5â meaning the fifth chromosome; the âpâ meaning the p arm (short arm) of the chromosome (above the centromere); and the â-âor âminusâ referring to the deletion that occurs.