Skeletal Dysplasia

What is Skeletal Dysplasia (abnormal skeletal development)?

It occurs due to the abnormal development of the bones and connective tissue.

It may refer to the identification of congenital (present at birth) abnormalities in the bones and connective tissue. It is more often used to describe the 360 rare conditions that have as a primary or main symptom the abnormal development of the bones and connective tissue.

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 should I do next?

In some instances, skeletal dysplasia may be one of the features of a rare disease or genetic syndrome. To find out if someone with Skeletal Dysplasia, may be due to a genetic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.