Clinical Features
Very frequent signs
- Abnormal gastrointestinal tract
- Absent pectoral muscles
- Brachydactyly (Short fingers)
- Dextrocardia
- Diaphragmatic hernia/defect
- Humerus absent/abnormal
- Liver/biliary tract anomalies
- Maternal diabetes
- Oligodactyly/missing fingers
- Radius absent/abnormal
- Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)
- Syndactyly of fingers (webbing)
- Ulna absent/abnormal
- Upper limb asymmetry
- Abnormal rib
- Simian crease on affected side
Frequent signs
- Hypoplastic/absent nipples
- Scapula anomaly
Occasional signs
- Agenesis/hypoplasia of kidneys
- Encephalocele/exencephaly
- Abnormal morphology of hypothalamic-hypophyseal axis
- Abnormal function of hypothalamic-hypophyseal axis
- Microcephaly
- Preaxial polydactyly
- Ureteric anomalies (reflux/duplex system)
- Vertebral segmentation anomaly
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