This condition may superficially resemble osteogenesis imperfecta with osseous deformities and frequent fractures. However, the occurrence of craniosynostosis and hydrocephalus helps to distinguish it. Cranial sutures may be slow to fuse and macrocephaly has been described. Communicating hydrocephalus can be a feature and may require shunting. Some patients have osteopenia of the long bones that fracture easily.
The facial features are said to be distinctive with midface hypoplasia, low-set ears, micrognathia, and, of course, prominent globes. Growth may be subnormal and a variety of limb bone and digital anomalies have been described. Intelligence is normal, however.