National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

IVIC syndrome



Other Names:
Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Oculootoradial syndrome; Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Oculootoradial syndrome; OORS See More
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2307

Definition
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

Epidemiology
Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described.

Clinical description
Asymmetrical upper limbs are a characteristic clinical manifestation. Thumb involvement is the most typical clinical manifestation and can range from absence or hypoplasia to the presence of a triphalangic thumb. Other upper limb anomalies include radial ray defects and carpal bone fusion. Upper limbs may be severely malformed. Extraocular motor disturbances and hearing loss of variable severity have also been reported. Some affected individuals have been reported to have mild thrombocytopenia, leukocytosis, shoulder girdle hypoplasia, cardiac involvement, kidney malrotation, intermediate anorectal malformation (see this term), or rectovaginal fistula. The clinical presentation is highly variable but lower limbs are normal. There have been reports of sudden death.

Etiology
The syndrome has been linked to mutations in the SALL4 gene (20q13.2) encoding a transcription factor involved in the maintenance and self-renewal of embryonic and hematopoietic stem cells. Okihiro syndrome (see this term) is a disorder allelic to IVIC syndrome.

Genetic counseling
IVIC syndrome is inherited in an autosomal dominant manner. Genetic counseling should be offered to affected families, informing them of the 50% chance of offspring inheriting the disease-causing mutation and therefore being affected with the syndrome.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2014

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Showing of 31 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Hypoplasia of the radius
Underdeveloped outer large forearm bone
0002984
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ]
0003510
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
30%-79% of people have these symptoms
Abnormal dermatoglyphics
Abnormal fingerprints
0007477
Radioulnar synostosis
Fused forearm bones
0002974
Scoliosis 0002650
Short thumb
Short thumbs
Small thumbs
[ more ]
0009778
Synostosis of carpal bones
Fusion of wrist bones
0005048
Triphalangeal thumb
Finger-like thumb
0001199
5%-29% of people have these symptoms
Anal atresia
Absent anus
0002023
Aplastic clavicle
Absent collarbone
0006660
Arrhythmia
Abnormal heart rate
Heart rhythm disorders
Irregular heart beat
Irregular heartbeat
[ more ]
0011675
Leukocytosis
Elevated white blood count
High white blood count
Increased blood leukocyte number
[ more ]
0001974
Preaxial hand polydactyly
Extra thumb
0001177
Rectovaginal fistula
Abnormal connection between rectum and vagina
0000143
Thrombocytopenia
Low platelet count
0001873
Percent of people who have these symptoms is not available through HPO
Absent thumb
Absent thumbs
0009777
Autosomal dominant inheritance 0000006
Carpal bone hypoplasia
Small carpal bones
Small carpals
[ more ]
0001498
Carpal synostosis 0009702
External ophthalmoplegia
Paralysis or weakness of muscles within or surrounding outer part of eye
0000544
Hypoplasia of deltoid muscle 0030241
Intestinal malrotation 0002566
Limited elbow movement
Decreased elbow mobility
Limited elbow mobility
Restricted elbow motion
[ more ]
0002996
Limited interphalangeal movement
Limited movement of hinge joints
0006064
Limited wrist movement
Limited movement of the wrist
0006248
Pectoralis major hypoplasia 0008953
Short 1st metacarpal
Shortened 1st long bone of hand
0010034
Small thenar eminence 0001245
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss IVIC syndrome. Click on the link to view a sample search on this topic.

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