IVIC Syndrome

IVIC Syndrome

Article
Ear, Nose, & Throat (ENT)
Bone, Muscle, & Joint
+8
Contributed byMaulik P. Purohit MD MPHApr 30, 2018

What are the other Names for this Condition? (Also known as/Synonyms)

  • Instituto Venezolano de Investigaciones Cientificas Syndrome (IVIC Syndrome)
  • Oculootoradial Syndrome (OORS)
  • Radial Ray Defects, Hearing Impairment, External Ophthalmoplegia, and Thrombocytopenia

What is IVIC Syndrome? (Definition/Background Information)

  • IVIC Syndrome (Instituto Venezolano de Investigaciones Cientificas 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
  • 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, or rectovaginal fistula
  • The clinical presentation is highly variable but lower limbs are normal. There have been reports of sudden death. 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

(Source: IVIC Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets IVIC Syndrome? (Age and Sex Distribution)

  • IVIC Syndrome is a highly-infrequent congenital disorder. A few familial cases have been reported from south American and European nations including Venezuela, Hungary, Italy, and Turkey
  • The presentation of symptoms may occur at birth
  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for IVIC Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since IVIC Syndrome is known to be inherited
  • Currently, no other risk factors have been clearly identified for this disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of IVIC Syndrome? (Etiology)

IVIC Syndrome is inherited in an autosomal dominant manner.

  • 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 is a disorder allelic to IVIC Syndrome

(Source: IVIC Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of IVIC Syndrome?

The signs and symptoms of IVIC Syndrome may include:

  • Absent thumb
  • Anal atresia
  • Carpal bone hypoplasia
  • Carpal synostosis
  • External ophthalmoplegia
  • Hearing impairment
  • Hypoplasia of deltoid muscle
  • Hypoplasia of the radius
  • Intestinal malrotation
  • Leukocytosis
  • Limited elbow movement
  • Limited interphalangeal movement
  • Limited wrist movement
  • Pectoralis major hypoplasia
  • Radioulnar synostosis
  • Rectovaginal fistula
  • Scoliosis
  • Short 1st metacarpal
  • Small thenar eminence
  • Strabismus
  • Thrombocytopenia
  • Triphalangeal thumb

(Source: IVIC Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is IVIC Syndrome Diagnosed?

IVIC Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of IVIC Syndrome?

The complications of IVIC Syndrome may include:

  • Organ dysfunction
  • Severe deformities, spinal curvature

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is IVIC Syndrome Treated?

There is no cure for IVIC Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can IVIC Syndrome be Prevented?

Currently, IVIC Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of IVIC Syndrome? (Outcomes/Resolutions)

  • The prognosis of IVIC Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for IVIC Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

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Maulik P. Purohit MD MPH picture
Approved by

Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team

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