orofacial cleft type 10
orofacial cleft type 10
A congenital malformation (OMIM:613705) consisting of uni- or bilateral cleft lip, ranging in severity from a simple notch in the upper lip to a complete opening in the lip extending into the floor of the nostril and involving the upper gum; it is associated associated with cleft palate in two-thirds of cases.Molecular pathology
Defects in SUMO1, which encodes a protein involved in palate development, causes orofacial cleft type 10.