Test Background

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.

Gene(s)