Orofaciodigital syndrome 4

Disease Overview

Orofaciodigital syndrome 4 is one of a group of related conditions that affect the development of the oral cavity (the mouth and teeth), facial features, and digits (fingers and toes).[5941] Specific features, while variable, commonly include non-cancerous tumors (hamartomas) of the tongue, polydactyly of the hands and feet, severe clubfoot, and shortening and bowing of the middle portion of the lower leg (mesomelic limb shortening with tibial dysplasia). Orofaciodigital syndrome 4 is inherited in an autosomal recessive fashion.[5942][5943] The condition appears to be caused by mutations in the tectonic family member 3 gene (TCTN3).[5943]

Synonyms

• OFD4
• Orofaciodigital syndrome with tibial dysplasia
• Baraitser-Burn syndrome
• OFD syndrome with tibial defects
• OFD syndrome 4
• Oral-facial-digital syndrome type 4
• Orofaciodigital syndrome IV
• Oral facial digital syndrome type 4
• Oral facial digital syndrome 4
• OFDS 4