IVIC syndrome

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IVIC syndrome
Synonyms
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Specialty	Medical genetics
Symptoms	Cleft lip and palate, congenital heart defects, ear anomalies, skeletal abnormalities
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Genetic testing, clinical evaluation
Differential diagnosis	Van der Woude syndrome, CHARGE syndrome
Prevention	Genetic counseling
Treatment	Surgical correction, supportive care
Medication
Prognosis	Variable, depending on severity
Frequency	Rare
Deaths

Alternate names

Instituto Venezolano de Investigaciones Cientificas syndrome; Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia; Oculootoradial syndrome; OORS

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.

Cause

• 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

• 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

• 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

The diagnosis is based on the clinical findings; defects in the carpal joint and fingers are found in the X-ray image .

NIH genetic and rare disease info

• NIH info on IVIC syndrome

IVIC syndrome is a rare disease.