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  • An X-linked or autosomal dominant syndrome due to mutation(s) in a number of genes, including FGFR1 (encoding fibroblast growth factor receptor 1), KAL1 (encoding anosmin-1), PROKR2 (encoding prokineticin receptor-2), CDH7 (encoding chromodomain helicase DNA binding protein 7), and FGF8 (encoding fibroblast growth factor 8). This condition is characterized by an impaired sense of smell and a deficiency of gonadotropin-releasing hormone, resulting in hypogonadotropic hypogonadism. Additional features may include cleft lip or palate, unilateral kidney dysgenesis, and synkinesia.
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