| A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay (in some patients also severe language deficiency), intellectual disability, hypotonia, peculiar brain malformations (including dysplastic corpus callosum, cortical malformations included dysgyria and polymicrogyria), and facial dysmorphism (including wide forehead with frontal bossing and high anterior hairline, prominent eyes with upslanted palpebral fissures, arched eyebrows, long eyelashes, midface hypoplasia, broad nasal bridge and anteverted nares). Dysphagia, failure to thrive, seizures, musculoskeletal abnormalities (such as scoliosis, vertebral defects, pes planus and joint laxity) are also present in the majority of the patients. Additional clinical features may include dyspraxia, genitourinary, ocular, respiratory, endocrinological and behavioral abnormalities. |
