Duane-radial ray syndrome (Okihiro syndrome)

Genetics

• autosomal dominant
• associated with defects in SALL4

Clinical manifestations

• upper limb anomalies
• ocular anomalies
• in some cases, renal anomalies
• less common features include:
  • sensorineural deafness
  • gastrointestinal anomalies, such as imperforate anus

Differential diagnosis

• IVIC syndrome

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• IVIC syndrome

Database

• OMIM: https://mirror.omim.org/entry/607323