A very rare syndrome characterized by overlapping fingers, abnormally placed urethral opening in males, protruding eyes and Robin association (small jaw and downward displaced tongue).
* Undescended testes * Overlapping finger * Abnormally placed urethral opening * Protruding eyes * Small head * Small jaw * Downward displaced tongue * Low hair line * Low set ears * Simian crease * Premature birth * Sacral sinus * Flat nose * Cleft soft palate * Broad nose * Abnormal dermatoglyphics * Long narrow head
* Sturge-Weber syndrome * Sinusitis * Orbital mass * Wegener's granulomatosis * Nasal type natural killer/T-cell lymphoma * Osteodysplasty (Melnick-Needles) * Orbital cellulitis * Lowry-MacLean syndrome * Dermoid cyst * Orbital inflammatory pseudotumor * Crouzon craniofacial dysostosis * Graves' disease * Polyarteritis nodosa * Carotid-cavernous fistula * Cloverleaf skull syndrome * Schinzel-Giedion midface-retraction syndrome * Cavernous sinus thrombosis * Endophthalmitis * Neu-Laxova syndrome * Insulin receptor defect with insulin-resistant diabetes mellitus * Histiocytosis X
Begin by asking when the patient first noticed exophthalmos. Is it associated with pain in or around the eye? If so, ask him how severe it is and how long he has had it. Then ask about recent sinus infection or vision problems. Take the patient’s vital signs, noting fever, which may accompany an eye infection. Next, evaluate the severity of exophthalmos with an exophthalmometer. (See Detecting unilateral exophthalmos.) If the eyes bulge severely, look for cloudiness on the cornea, which may indicate ulcer formation. Describe any eye discharge and observe for ptosis. Then check visual acuity, with and without correction, and evaluate extraocular movements. Palpate the patient’s thyroid for enlargement or goiter.
* 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