Conditions / Syndrome
IVIC syndrome
info · Syndrome
A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2.
Signs and symptoms
- Short femur
- Hearing impairment
- Paroxysmal tonic upgaze
- Thrombocytopenia
- Carpal bone hypoplasia
- Short 1st metacarpal
- Hypoplasia of deltoid muscle
- Pectoralis major hypoplasia
- Limited elbow movement
- Radioulnar synostosis
Also known as: Instituto Venezolano de Investigaciones Cientificas syndrome; OORS; Oculootoradial syndrome; oculo-oto-radial syndrome; radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia