Congenital fibrosis of extraocular muscles (Q68908)

Congenital fibrosis of the extraocular muscles (CFEOM) refers to at least seven genetically defined strabismus syndromes: CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, and Tukel syndrome, characterised by congenital non-progressive ophthalmoplegia with or without ptosis (droopy eyelids). In general, affected individuals have severe limitation of vertical gaze (usually upgaze) and variable limitation of horizontal gaze. Individuals with CFEOM frequently compensate for the ophthalmoplegia by maintaining abnormal head positions at rest and by moving their heads rather than their eyes to track objects. Individuals with CFEOM3A may also have intellectual disability, social disability, facial weakness, and/or a progressive axonal peripheral neuropathy (a form of Charcot-Marie-Tooth disease). Individuals with Tukel syndrome also have postaxial oligodactyly or oligosyndactyly of the hands.