From the Research
Marfan syndrome is characterized by distinctive facial features, including a long, narrow face, deep-set eyes, downward-slanting eyelids, and a small jaw, as identified in a 2018 study 1 that used a 3D quantitative approach to define dysmorphic features. These facial features are a result of connective tissue abnormalities caused by mutations in the fibrillin-1 gene. People with Marfan syndrome often have a high, arched palate that can lead to crowded teeth, and they may display a long, thin nose. The head appears relatively small compared to body height, and the ears might be slightly smaller than average. Facial asymmetry can sometimes be present. The 2018 study 1 found that all subjects with Marfan syndrome showed greater facial divergence and a lower facial height index than reference subjects, with a shorter mandibular ramus and a mild but significant increase in facial height. Palpebral down-slanting was found in 85% of Marfan syndrome subjects. Another study in 2019 2 also characterized the craniofacial morphology of Marfan syndrome patients, finding that the majority of participants had retrognathia and down-slanting palpebral fissures. While these facial characteristics can suggest Marfan syndrome, they vary in severity among individuals, and diagnosis requires evaluation of multiple body systems, particularly the cardiovascular and skeletal systems, as facial features alone are not sufficient for diagnosis. Early recognition of these features can lead to proper diagnosis and management of more serious complications associated with the condition. Key features of Marfan syndrome include:
- Long, narrow face
- Deep-set eyes
- Downward-slanting eyelids
- Small jaw (micrognathia)
- High, arched palate
- Long, thin nose
- Relatively small head size compared to body height
- Slightly smaller than average ears
- Facial asymmetry These features develop because fibrillin-1 defects affect the structural integrity of connective tissues throughout the body, including those in the face. It is essential to note that the diagnosis of Marfan syndrome requires a comprehensive evaluation of multiple body systems, and facial features should be considered in the context of other clinical findings.