Introduction Roberts syndrome, also known as Roberts-SC phocomelia syndrome or pseudothalidomide syndrome, is a rare genetic disorder characterized by prenatal growth restriction, limb reductions, and craniofacial abnormalities. The upper extremities are more severely affected than the lower extremities, with common…
Introduction Fraser syndrome is a rare congenital malformation syndrome characterized by cryptophthalmos, syndactyly, and urogenital defects. Disease Definition Thomas et al. formulated the diagnostic criteria for Fraser syndrome including four major (cryptophthalmos, syndactyly, abnormal genitalia, and affected sibling) and eight minor…
Introduction Walker-Warburg syndrome (WWS) is a rare, lethal congenital diffuse neurodysplasia, characterized by variable ocular and cerebral abnormalities. Cerebral findings include ventriculomegaly, encephalocele, and Dandy-Walker malformation. Ocular findings are varied, may occur in the posterior or anterior segments of the…
Introduction Septooptic dysplasia (SOD), also known as de Morsier syndrome, is a rare heterogeneous disorder. It is characterized by optic nerve hypoplasia and midline forebrain abnormalities, such as agenesis of the corpus callosum, absence of the cavum septi pellucidi, and…