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Keratoconus posticus circumscriptus (kpc; kpc with associated malformations) 6


Keratoconus Posticus Circumscriptus (KPC; KPC with Associated Malformations) 6

General: Autosomal recessive; rare; abnormality in corneal curvature centrally localized on its posterio 535b17f r surface in association with opacification of the overlying stroma; may be an anterior chamber cleavage defect with failure of normal separation of the lens and iris from the cornea.

Ocular: Corneal opacities; retinal coloboma; ptosis; hyperopia; iridocorneal adhesions; hypertelorism.

Clinical: Cleft lip; cleft palate; neck webbing; short stature; mental retardation; inguinal hernia; undescended testes; tight heel cords; vertebral anomalies; delayed bone age; double ureters; cone-shaped epiphyses; stubby limbs and digits; limitation of extension and supination of the elbows; brachydactyly; fifth finger clinodactyly; frequent urinary tract infections; prominent nose; mild maxillary hypoplasia; low posterior hairline; short, broad feet with bilateral pes cavus; bilateral ureteric reflux.



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/.

Young ID, et al. Keratoconus posticus circumscriptus, cleft lip and palate, genitourinary abnormalities, short stature, and mental retardation in sibs. J Med Genet 1982; 19:332-336.




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