orofacial cleft

Pathology

• cleft lip with or without cleft palate
• cleft lip can occur on one or both sides & range in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril & involving the upper gum

Genetics

• associated with defects in OFCC1 (type 1)
• associated with defects in MSX1 (type 5)
• associated with defects in IRF6 (type 6)
• associated with defects in TP63 (type 8)
• associated with defects in BMP4 (type 11)

More general terms

• congenital anomaly (birth defect)

More specific terms

• cleft lip
• cleft palate

Database

• OMIM: https://mirror.omim.org/entry/119530
• OMIM: https://mirror.omim.org/entry/129400
• OMIM: https://mirror.omim.org/entry/608874
• OMIM: https://mirror.omim.org/entry/608864
• OMIM: https://mirror.omim.org/entry/600625