IVIC syndrome

IVIC syndrome
Other namesInstituto Venezolano de Investigaciónes Científicas syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia, oculootoradial syndrome, OORS.
SpecialtyMedical genetics
SymptomsRadial ray defects, motor disturbances, and bilateral congenital hearing loss
Usual onsetBirth
DurationLife-long
CausesGenetic mutation
Risk factorsHaving a parent with the condition
Diagnostic methodPhysical evaluation, radiographies, and genetic testing
Preventionnone
PrognosisGood
FrequencyVery rare, only 3 families with the disorder have been described in medical literature

IVIC syndrome, also known as Instituto Venezolano de Investigaciónes Científicas syndrome or oculo-oto-radial syndrome is a very rare autosomal dominant limb malformation genetic disorder that is characterized by upper limb and ocular abnormalities and congenital hearing loss on both ears.

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