Kallmann syndrome (hypogonadotropic hypogonadism-anosmia syndrome)

General: Disorder of hypothalamic function involving the control of releasing factors, with hyp 949j94j ogonadism and anosmia as the clinical signs; agenesis of olfactory bulbs; midline cranial anomalies (cleft lip, cleft palate, imperfect fusion); autosomal recessive phenotype.

Ocular: Color blindness (variable occurrence).

Clinical: Failure of sexual maturation; decrease in primary and secondary sex characteristics; loss of smell; hypertension; mental retardation; schizophrenia.

Cowen MA, Green M. The Kallmann's syndrome variant (KSV) model of the schizophrenias. Schizophr Res 1993; 9:1-l0.

Kallmann RJ, et al. The genetic aspects of primary eunuchoidism. Am J Ment Defic 1944; 48:203.

Males JL, et al. Hypogonadotropic hypogonadism with anosmia-Kallmann's syndrome. Arch Intern Med 1973; 131:501.

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/.

White BK, et al. The syndrome of anosmia with hypogonadotropic hypogonadism: a genetic study of 18 new families and a review. Am J Med Genet 1983; 15:417-435.