Paula and Bobby
Parents of Lillie
Understanding skeletal 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 skeletal system is made up of all of the bones and joints of the body. This includes 270 bones at birth, which reduces to 206 once an individual reaches adulthood as some bones fuse together during this period.
The skeletal system has many crucial functions including the protection of crucial body organs, body movement, storing minerals and fats and forming blood cells.
Symptoms affecting the skeletal system may be seen with the naked eye. Diagnosing a skeletal related symptom may involve different tests and assessments, both subjective and objective.
Symptoms relating to the skeleton may affect the ability of an individual to function and move normally.
What is Pectus Excavatum?
It is a defect of the chest where the sternum of the chest is depressed. This gives the chest the appearance of being ‘caved-in.’
What should I do next?
In some instances pectus excavatum 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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Our platform is currently used by over 70% of geneticists and has been used to diagnose over 250,000 patients worldwide.
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