Medical Dictionary

Apert syndrome

noun \ä-ˈper-\
variants: also

Apert's syndrome

Medical Definition of Apert syndrome

  1. :  a rare congenital condition in which premature closure of the cranial sutures results in malformation of the skull with characteristic facial features (such as widely spaced eyes and a prominent forehead) and fusion and webbing of the toes and fingers Most cases of Apert syndrome result from a spontaneous mutation in which the defective gene is not present in either parent. In rare cases, the syndrome may be inherited as an autosomal dominant trait, requiring that one parent pass on a copy of the defective gene on a chromosome other than a sex chromosome. —see acrocephalosyndactyly

Biographical Note for apert syndrome



Eugène Charles

(1868–1940), French pediatrician. First given a position as a physician in Paris's Hôtel-Dieu, Apert later specialized in pediatrics at the Hôpital Saint-Louis. From 1919 to 1934 he served on the staff at the Hôpital des Enfants-Malades, his main areas of research being genetic diseases and congenital deformities. In 1906 he published a case report documenting several patients who had congenital malformations of the skull in conjunction with joined fingers. The author of numerous articles concerning pediatrics, he published a widely used manual on child rearing. He was also a founding member of the French Society of Eugenics.

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a rounded knoll or a ridge of ice

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