omodysplasia 2

An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome

An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21.

Signs and symptoms

• Short humerus
• Hypertelorism
• Rhizomelic arm shortening
• Depressed nasal bridge
• Labial hypoplasia
• Fibular hypoplasia
• Tented upper lip vermilion
• Broad femoral neck
• Dyspareunia
• Long philtrum