The affected individuals have a characteristic
cherubic facies as a result of fibrous dysplasia of the mandibule
associated with gingival fibromatosis and overgrowth that leads to inability
to close the mouth. Other features include epilepsy, mental retardation,
hypertrichosis, and small stature. Some of the reported cases had clinical
and radiological signs of juvenile rheumatoid arthritis. Other patients
present with ocular involvement (anterior and posterior segment ocular
abnormalities, including Axenfeld anomaly, retinopathy, and pale anomalous
optic discs). Finally, other manifestations have been described, such as
diabetes mellitus, telangiectasia, sensorineural deafness, and changes in
the retina.