Ward Romano Syndrome, also known as oral-facial-digital syndrome type VI (OFDVI), is a rare genetic disorder characterized by abnormalities affecting the mouth, face, and digits. This syndrome was first described by Ward and Romano in 1989, hence the name.
Individuals with Ward Romano Syndrome typically exhibit a combination of distinctive craniofacial features and oral abnormalities. Facial characteristics may include a prominent forehead, hypertelorism (increased width between the eyes), a broad nasal bridge, a small nose with anteverted nostrils, and low-set or malformed ears. Additionally, affected individuals may present with cleft lip and/or palate, dental malformations, and a high-arched palate.
The digital anomalies associated with Ward Romano Syndrome comprise polydactyly (extra fingers or toes), syndactyly (webbing or fusion of digits), or brachydactyly (shortened fingers or toes). Moreover, individuals may also exhibit additional physical anomalies, such as limb abnormalities, kidney malformations, and intellectual disability.
Ward Romano Syndrome is caused by mutations in the TMEM231 gene, which is responsible for the proper development and function of cilia. Cilia are tiny, fingerlike projections found on the surface of various cells in the body, and they play important roles in cell signaling and tissue development. The genetic mutations disrupt cilia formation, leading to the wide range of symptoms observed in affected individuals.
Diagnosis of Ward Romano Syndrome is typically established based on clinical features with the assistance of genetic testing to identify TMEM231 mutations. Although there is currently no cure for this syndrome, management primarily involves addressing the individual’s specific needs, such as surgical interventions for craniofacial or limb abnormalities and supportive therapies
