Orofaciodigital syndrome 2

Disease Overview

Orofaciodigital syndrome type 2 (OFDS 2) is a genetic condition that affects the development of the mouth, face, hands, and feet.[1300] It belongs to a group of disorders called orofaciodigital syndromes (OFDS), which are characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes.[12180] Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. Signs and symptoms may include: cleft lip and/or palate, additional or fused fingers or toes (polydactyly or syndactyly), characteristic facial features, and congenital heart defects. Although it is highly suspected that OFDS 2 is genetic, the exact gene that causes the syndrome has not been identified. It is believed to be inherited in an autosomal recessive pattern. Although there is no specific treatment or cure for OFDS 2, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.[1300][12178]

Synonyms

• OFD2
• OFD syndrome 2
• Oral-facial-digital syndrome type 2
• Mohr syndrome
• Orofaciodigital syndrome II
• Oral facial digital syndrome 2
• Oral facial digital syndrome type 2
• OFDS 2