Carpenter syndrome (acrocephalopolysyndactyly type ii) 202

General: Hereditary; transmitted as an autosomal recessive trait; severe form of Apert syndrome; normal intelligence has been reported with this syndrome; polysyndactyly is not an absolute requirement for this diagnosis.

Ocular: Lateral displacement of inner canthus; epicanthal folds; microcornea; corneal opacities.

Clinical: Acrocephalopolysyndactyly; brachydactyly; peculiar facies; obesity; mental retardation; hypogonadism; generalized aminoaciduria; cryptorchidism; hypogenitalism.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.

Jamil MN, et al. Carpenter's syndrome (acrocephalopolysyndactyly type II) with normal intelligence. Br J Neurosurg 1992; 6:243-247.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

Temtamy SA. Carpenter's syndrome: acrocephalopolysyndactyly. J Pediatr