Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome

A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay and intellectual disability associated with brain malformations (including abnormal gyration patterns, ventriculomegaly, white matter abnormalities and hypoplasia of the corpus callosum and cerebellar hemispheres), facial dysmorphisms (including facial asymmetry, midface retraction, deep-set eyes, downslanting palpebral fissures, low-set ears, broad and depressed nasal bridge, short philtrum) and musculoskeletal abnormalities (including hemivertebrae, scoliosis or kyphosis, contractures, and joint laxity). Additional clinical manifestations include seizures, strabismus, vision loss, urogenital malformations, heart defects and short stature.