- Severe joint contractures
- Hydrocephalus from Dandy Walker anomaly
- Overlap with Gordon syndrome
- Triphalangeal thumbs (finger-like)
- Anemia
- Might be the same as Diamond-Blackfan Syndrome
- Downslanting palpebral fissures: euryblepharon, occasionally
- Ptosis
- Retinopathy occasionally
- Ventricular septal defect
- Cleft palate
- Congenital Neuroblastoma (1 case)
- Most likely autosomal recessive
- Very few cases reported
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