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 A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders ...

that is characterized by upper limb and ocular abnormalities and

congenital hearing loss Congenital hearing loss is a hearing loss present at birth. It can include hereditary hearing loss or hearing loss due to other factors present either in-utero (prenatal) or at the time of birth. Genetic factors Genetic factors are thought to ...

on both ears.

Presentation

People with this disorder often have the following symptoms: * Radial ray defects * Fusion of the carpal bones * Long thumb metacarpal * Short distal phalange of the thumb * Bilateral

* Internal

ophthalmoplegia Ophthalmoparesis refers to weakness (-paresis) or paralysis (-plegia) of one or more extraocular muscles which are responsible for eye movements. It is a physical finding in certain neurologic, ophthalmologic, and endocrine disease. Internal ...

(eye paralysis) *

Thrombocytopenia Thrombocytopenia is a condition characterized by abnormally low levels of platelets, also known as thrombocytes, in the blood. It is the most common coagulation disorder among intensive care patients and is seen in a fifth of medical patients a ...

Leukocytosis Leukocytosis is a condition in which the white cell (leukocyte count) is above the normal range in the blood. It is frequently a sign of an inflammatory response, most commonly the result of infection, but may also occur following certain parasi ...

Etimology

This disorder was first discovered in 1980 by ''Arias et al.'', when he described a Venezuelan family of Caucasian descent where 19 of its members exhibited the symptoms mentioned above. When the family tree was revised, it was found that the family's ancestors emigrated from the Canary Islands to

Venezuela Venezuela (; ), officially the Bolivarian Republic of Venezuela ( es, link=no, República Bolivariana de Venezuela), is a country on the northern coast of South America, consisting of a continental landmass and many islands and islets in th ...

140 years before, more specifically somewhere in the 1800s, the mutation causing the disorder seemed to have come into existence in a member belonging to the 6th generation of the family. Afterwards, two more affected families were reported in medical literature, one from

Italy Italy ( it, Italia ), officially the Italian Republic, ) or the Republic of Italy, is a country in Southern Europe. It is located in the middle of the Mediterranean Sea, and its territory largely coincides with the homonymous geographical ...

and the other from Turkey. This disorder is named after the institute where Arias et al. (whose real name was

Sergio Arias Cazorla Sergio Arias Cazorla (born 1952) is a human geneticist who worked as a geneticist in the Venezuelan Institute for Scientific Research (Spanish: Instituto Venezolano de Investigaciónes Científicas). He first started studying medicine at the ...

) worked as a

geneticist A geneticist is a biologist or physician who studies genetics, the science of genes, heredity, and variation of organisms. A geneticist can be employed as a scientist or a lecturer. Geneticists may perform general research on genetic processes ...

; the ''Instituto Venezolano de Investigaciónes Científicas'' (English: ''

Venezuelan Institute for Scientific Research The Venezuelan Institute for Scientific Research (IVIC), or ''Instituto Venezolano de Investigaciones Cientificas'', is a scientific research institute and graduate training center in Venezuela founded by government decree on February 9, 1959. It h ...

''), Arias was also a

zoology Zoology ()The pronunciation of zoology as is usually regarded as nonstandard, though it is not uncommon. is the branch of biology that studies the animal kingdom, including the structure, embryology, evolution, classification, habits, and ...

professor at the ''Escuela de Capacitación Forestal de El Junquito'' (English: ''Forest Capacitation School El Junquito'') from 1952 to 1953, then from 1970 to 1975 he was a

biology Biology is the scientific study of life. It is a natural science with a broad scope but has several unifying themes that tie it together as a single, coherent field. For instance, all organisms are made up of cells that process hereditary i ...

professor at the ''Universidad Simón Bolívar'' (English: ''Simón Bolívar University''), then from 1975 to 1996 he was a

human genetics Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population gene ...

professor (presumably at the same university) It was later discovered in 2007 by Arias and Paradisi et al. through the original Venezuelan family with IVIC syndrome that the cause of the disorder is an autosomal dominant

genetic mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...

in the

SALL4 Sal-like protein 4 (SALL4) is a transcription factor encoded by a member of the ''Spalt-like'' (''SALL'') gene family, ''SALL4''. The ''SALL'' genes were identified based on their sequence homology to ''Spalt,'' which is a homeotic gene originally ...

gene, in

chromosome 20 Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosome 20 spans around 66 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Chromosome 20 was fully sequenced i ...

References

{{reflist Rare genetic syndromes Autosomal dominant disorders