IVIC syndrome
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.
| IVIC syndrome | |
|---|---|
| Other names | Instituto Venezolano de Investigaciónes Científicas syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia, oculootoradial syndrome, OORS. |
| Specialty | Medical genetics |
| Symptoms | Radial ray defects, motor disturbances, and bilateral congenital hearing loss |
| Usual onset | Birth |
| Duration | Life-long |
| Causes | Genetic mutation |
| Risk factors | Having a parent with the condition |
| Diagnostic method | Physical evaluation, radiographies, and genetic testing |
| Prevention | none |
| Prognosis | Good |
| Frequency | Very rare, only 3 families with the disorder have been described in medical literature |
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