IVIC syndrome

Genetics

• autosomal dominant
• associated with defects in SALL4

Clinical manifestations

• upper limbs anomalies
  • radial ray defects
  • bones fusion
• extraocular motor disturbances
• congenital bilateral non-progressive mixed hearing loss
• less consistent malformations include:
  • heart involvement
  • shoulder girdle hypoplasia
  • imperforate anus
  • kidney malrotation
  • rectovaginal fistula

Laboratory

• complete blood count:
  • mild thrombocytopenia & leukocytosis (before age 50) is an inconsistent finding

Differential diagnosis

• allelic disorder of Duane-radial ray syndrome with a similar phenotype

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• Duane-radial ray syndrome (Okihiro syndrome)

Database

• OMIM: https://mirror.omim.org/entry/147750