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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) [5]

Specific

cleft lip cleft palate

General

congenital anomaly (birth defect)

Database Correlations

OMIM correlations

References

  1. OMIM :accession 119530
  2. OMIM :accession 129400
  3. OMIM :accession 608874
  4. OMIM :accession 608864
  5. OMIM :accession 600625