IVIC syndrome
Alternate names[edit | edit source]
Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Oculootoradial syndrome; OORS
Definition[edit | edit source]
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[edit | edit source]
Prevalence of IVIC is not known. To date, four affected families from Venezuela, Italy, Hungary, and Turkey (discordant monozygotic twins) have been described.
Cause[edit | edit source]
- 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.
Inheritance[edit | edit source]
- 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.
Signs and symptoms[edit | edit source]
- 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.
Diagnosis[edit | edit source]
The diagnosis is based on the clinical findings; defects in the carpal joint and fingers are found in the X-ray image .
Treatment[edit | edit source]
NIH genetic and rare disease info[edit source]
IVIC syndrome is a rare disease.
IVIC syndrome Resources | ||
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