IVIC syndrome

IVIC syndrome
Other namesInstituto Venezolano de Investigaciónes Científicas syndrome, Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia, oculootoradial syndrome, OORS.[1]
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.[2][3]

  1. ^ "IVIC syndrome". 16 June 2022.
  2. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: IVIC syndrome". www.orpha.net. Retrieved 2022-05-15.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ^ "IVIC syndrome - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-15.