The IVIC syndrome is an autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia. It is caused by mutations in the SALL4. SALL4 encodes a transcription factor with a wide expression in early embryogenesis, and later expression restricted to adult testis and ovary.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02283 IVIC syndrome
Arias S, Penchaszadeh VB, Pinto-Cisternas J, Larrauri S
Title
The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, external ophthalmoplegia, and thrombocytopenia.
