Kyphosis, scoliosis, lordosis, and vertebral anomalies. Seizures, hemiparesis, and contractures occur in most cases. Cranial nerve disorders usually involve the sixth, seven, and eighth cranial nerve. Occasional cortical atrophy, cerebral hemangiomas or vascular malformations, hydrocephalus, hemimegaloencephaly, agenesis of the cerebellar vermis, cysts continuous with the fourth ventricle of the brain, porencephaly, macrocephaly, brain calcifications, cerebral tumors may be associated, and agenesis of corpus callosum. Cardiovascular complications may include ventricular septal defect, coarctation of the aorta, pulmonic stenosis, patent ductus arteriosus, dilated pulmonary artery, and hypoplastic left heart.
Most cases are sporadic but some are familial.
MIM lists this syndrome in the autosomal dominant catalog. Hemihypertrophy or localized gigantism. Hemangioma, keratoacanthoma, Wilms tumor, rhabdomyosarcoma, carcinoma, and adenocarcinoma occur in some cases.