Bone fragility craniosynostosis proptosis hydrocephalus


A very rare genetic disorder characterized by fragile bones, premature closure of skull bones, protruding eyeballs and fluid buildup in the skull.


* Fragile bones * Fractures * Protruding eyeballs * Premature fusion of skull bones * Abnormal skull shape * Fluid buildup in skull * Prominent forehead * Widely spaced eyes * Retarded growth * Underdeveloped midface * Small jaw


* Treat the underlying cause, although treatment of Graves’ disease does not always improve ophthalmopathy, and radioactive iodine may make it worse; systemic steroids for acute flareups only * Prevent eye injury and discomfort with artificial tears and sunglasses; may patch eye while sleeping * Surgical decompression (in TAO and retrobulbar hemorrhage with acute optic neuropathy by direct compression or by increased intraocular pressure) * If due to infectious causes, appropriate directed systemic intravenous antibiotic therapy and/or surgical debridement * If due to noninfectious inflammation, administer systemic steroids or immunomodulating therapy, particularly if there is acute optic neuropathy * Incisional or excisional biopsy of orbital tumors