Dysmorphic Syndromes with Ocular and Skeletal Anomalies

Very rare morbid conditions belong to this group in which alterations of the skeleton and other organs are associated with important anomalies of the eye and ocular region. The most common syndromes in which ocular and skeletal anomalies are associated are microphthalmia with limb anomalies, ophthalmomandibulomelic dysplasia, Duane syndrome (Okihiro syndrome), Fraser syndrome, Hallermann-Streiff syndrome, Laurence-Moon-Bardet-Biedl syndrome, Lenz syndrome, Mietens-Weber syndrome, Moebius syndrome, Weill-Marchesani syndrome, Wildervanck syndrome, EEM syndrome, Lacrimoauriculodentodigital syndrome, and oculo-oto-radial syndrome. The study of the orbital cavities is useful for the recognition of anophthalmia or a congenital cataract, which could allow to recognize these anomalies and to deepen the study, with greater attention, on all other systems in order to verify that there are no associations of other anomalies. In any case, ocular anomalies, both isolated and associated, always require genetic counseling with the study of the molecular karyotype in order to possibly recognize the existence of genetic mutations and, if possible, to know the name of the syndrome.