Most common clinical features are microcephaly with
prominent occiput, mental retardation, narrow palpebral fissures,
telecanthus, retrognathia and low-set ears. The presence of a laryngeal cleft/vocal
cord palsy gives an abnormal cry and voice. The gastrointestinal defects include
esophageal atresia (EA) [with or without tracheoesophageal fistula (TEF) or duodenal
atresia (DA)], occurs in 30% of patients. Other features include a patent
ductus arteriosus, sacral spine anomalies (sagittal cleft), and blockage of
C5-C6 vertebrae. Neural arch fusion at C6-C7 has been reported. Short stature,
syndactyly of toes, brachydactyly type A, clinodactyly, slender thumbs with limited
flexion in the distal interphalangeal joint.