Dysmorphic Syndromes with Genital and Skeletal Anomalies

This group includes morbid conditions in which the malformations of the genital organs, together with the lesions of the skeleton, represent the main element of the whole syndromic disease. The main syndromes characterized by this association are MURCS association, branchioskeletogenital syndrome, Aarskog syndrome, Biemond syndrome type 2, Borjeson-Forssman-Lehmann syndrome, McKusick-Kaufman syndrome, Noonan syndrome, Ruvalcaba syndrome, Smith-Lemli-Opitz syndrome, and HFU syndrome. The message is to carefully observe the genital system, and if there is an anomaly, as well as a careful and meticulous study of all the systems, request a genetic consultation and the study of the molecular karyotype.