Description

Frontometaphyseal dysplasia (FMD) is a rare genetic disorder that primarily affects the bones and facial features of an individual. It is characterized by thickening of the bones in the forehead, as well as abnormalities in the metaphyses (the widening regions) of the long bones.

Symptoms

Common symptoms of FMD include prominent forehead, wide-set eyes, a flat nose, wide nasal bridge, and an elongated face. Other possible features include fused skull bones, hearing loss, dental abnormalities, and joint contractures.

Cause

FMD is caused by mutations in the MAP2K1 gene, which provides instructions for producing a protein involved in cell signaling. These mutations lead to an overactive protein that disrupts normal bone development and facial growth.

Inheritance

FMD follows an autosomal dominant pattern of inheritance, which means that an affected individual has a 50% chance of passing the condition onto their children.

Treatment

Treatment for FMD primarily focuses on managing the symptoms associated with the disease. This may include surgery to correct bone abnormalities, hearing aids for hearing loss, or dental interventions for dental issues.