Paula and Bobby
Parents of Lillie
Understanding face related symptoms and features.
Symptoms may affect multiple parts of the body. Understanding which part of the body a symptom affects, can help us to better understand the potential underlying causes of a symptom, including a rare disease or genetic syndrome.
The face contains the nose, eyes and mouth, all of which are sensory organs. The face also displays emotions and feelings and plays a crucial role in communication. The face runs from the forehead at the top, to the chin at the bottom and encompasses everything in between.
Symptoms affecting the face can for the most part be seen with the naked eye. Although diagnosing a face related symptom may involve different tests and assessments, both subjective and objective.
Symptoms relating to the face may affect its structure, shape and/ or function. Some features will affect just the appearance of the face while others may affect its ability to express emotions and to communicate non-verbally.
What is a pear-shaped nose?
A pear-shaped nose is an abnormal nasal structure. This shape can be caused by a rare autosomal syndrome caused by mutations in the Trichorhinophalangeal Syndrome Type I gene. It is a distinctive change in facial appearance.
What should I do next?
In some instances, a pear-shaped nose may be one of the features of a rare disease or genetic syndrome. In this case fast, targeted genetic analysis can give you a more accurate diagnosis.
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