Cranial features may include hydrocephalus
associated with a Dandy-Walker malformation, ptosis, external ear
deformities, and limited mouth opening. Multiple ventricular septal defects
have been reported. Severe joint contractures affect predominantly the
fingers. Very thin and filiform fingers with absent knuckles. Limited
extension of the elbows and knees. Clubfoot deformity. Congenital
neuroblastoma has been reported.