Patients with Witkop syndrome have varying degrees of missing teeth and poorly formed fingernails and toenails. It is inherited in an autosomal dominant manner. Orofacial Cleft 5 is nonsyndromic and presents with varying degrees of cleft lip with and without cleft palate. Tooth Agenesis is characterized by oligodontia. 75% of patients with mutations in MSX1 have absence of the maxillary first premolars. These conditions are inherited in an autosomal dominant manner.
This laboratory performs Sanger sequencing of the MSX1 gene.