3MC syndrome type 1
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Genetics
- associate with defects in MASP1
Clinical manifestations
- facial dysmorphism
- hypertelorism
- blepharophimosis
- blepharoptosis
- highly arched eyebrows
- cleft lip &/or cleft palate
- craniosynostosis
- learning disability
- genital, limb & vesicorenal anomalies