autosomal dominant nonsyndromic cleft lip/palate
autosomal dominant nonsyndromic cleft lip and palate
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common congenital facial defects, with an incidence of 1 in 700-1,000 live births among individuals of European descent.
Locus
OFC11 (orofacial cleft 11) at 18q21.1
References
Beiraghi S, Nath SK, Gaines M, Mandhyan DD, Hutchings D, Ratnamala U, McElreavey K, Bartoloni L, Antonarakis GS, Antonarakis SE, Radhakrishna U. Autosomal dominant nonsyndromic cleft lip and palate: significant evidence of linkage at 18q21.1. Am J Hum Genet. 2007 Jul;81(1):180-8. PMID: 17564975