GAPO Syndrome (Growth Retardation, Alopecia, Pseudoanodontia, Optic Atrophy Syndrome)
General: Autosomal recessive.
Ocular: Progressive optic atrophy; glaucoma; keratoconus.
Clinical: Growth retardation; alopecia; pseudoanodontia; frontal bossing; high forehead; midfacial hypoplasia; wide-open anterior fontanelle; retarded bone age; premature aged appearance; hypogonadism; hepatomegaly; muscular body build.
Gagliardi ART, et al. GAPO syndrome: report of three affected brothers. Am J Med Genet 1984; 19:217-223.
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/.
Phadke SR, et al. GAPO syndrome in a child without dermal hyaline deposit. Am J Med Genet 1994; 51:191-l93.
Sayli BS, Gul D. GAPO syndrome in three relatives in a Turkish kindred. Am J Med Genet 1993; 47:342-345.
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