Rosenthal Melkerson Syndrome (RMS) is a rare genetic disorder that is characterized by a variety of abnormalities affecting the face, skull, and limbs. It is a congenital condition, meaning it is present at birth, and is often detected during infancy or early childhood.
Individuals with Rosenthal Melkerson Syndrome typically exhibit distinct facial features, including a prominent forehead, widely spaced eyes, a broad nasal bridge, and a small lower jaw. Additionally, they may have cleft lip and palate, dental abnormalities, and an abnormal enlargement of the tongue.
In terms of skeletal abnormalities, individuals with RMS may have malformations of the fingers and toes, such as fused digits or missing phalanges. Furthermore, this syndrome can lead to the development of extra bones in the hands or feet. In some cases, there may also be asymmetry or uneven growth of the limbs.
Other potential features of Rosenthal Melkerson Syndrome may include hearing loss, vision problems, and intellectual disability, although the severity and presence of these symptoms can vary among individuals.
Currently, the underlying cause of Rosenthal Melkerson Syndrome remains largely unknown. The condition is believed to be inherited in an autosomal dominant pattern, meaning that a child has a 50% chance of inheriting the gene mutation from an affected parent. However, sporadic cases with no family history have also been reported.
Treatment for Rosenthal Melkerson Syndrome typically involves a multidisciplinary approach that aims to address the specific symptoms and challenges faced by each affected individual. Speech therapy, orthodontic treatment, and surgical interventions may be used to manage cleft lip and palate, dental issues, and other concerns associated with the disorder. Additionally, early intervention programs and educational support can help individuals with learning and developmental delays to reach their
