IVIC syndrome

IVIC syndrome (also known as Instituto Venezolano de Investigaciones Científicas syndrome or oculo-oto-radial syndrome) is a rare autosomal dominant genetic disorder originally described in a large Venezuelan family. It is caused by mutations in the SALL4 gene, which plays a critical role in embryonic development. The syndrome is characterized by a distinctive combination of upper limb malformations, hearing impairment, and eye abnormalities, affecting the skeletal, auditory, and ocular systems. Key clinical features include radial ray defects of the upper limbs, which can range from hypoplasia or absence of the thumbs to more severe forearm abnormalities involving the radius. Hearing loss is typically sensorineural and may vary in severity. Ocular findings include Duane anomaly (a type of eye movement disorder characterized by limited abduction of the eye), strabismus, and other oculomotor abnormalities. Some affected individuals may also have thrombocytopenia (low platelet count) or other hematologic abnormalities. Additional features reported in some patients include imperforate anus and other minor anomalies. There is no cure for IVIC syndrome, and management is supportive and symptom-based. Treatment may include surgical correction of limb anomalies, hearing aids or other auditory rehabilitation for hearing loss, and ophthalmologic management for eye movement disorders. Hematologic abnormalities, when present, require monitoring and appropriate intervention. Genetic counseling is recommended for affected families given the autosomal dominant inheritance pattern, with variable expressivity observed even within the same family.

Common questions about IVIC syndrome