Genetic Skeletal Disorders
Also known as: skeletal dysplasia, congenital skeletal disorders, genetic disorders of the skeleton.
What are genetic skeletal disorders?
Genetic disorders of the bones and joints (skeletal disorders) are a large group (hundreds) of rare clinically distinct and genetically varied conditions that affect fetal bones as they develop in the uterus. They may affect bones in different ways with some being more while others are less severe. A few examples include; dwarfism (unrelated to hormone or other diseases), limb defects or deficiencies, non-rheumatoid cartilage diseases, skeletal dysplasias plus many others.
What causes genetic skeletal disorders?
As the name implies, the disorders are due to genetic abnormalities which are usually grouped into; 1).Those inherited as a dominant or recessive trait, or X-linked disorder. 2).The result of a spontaneous gene mutation (most commonly). 3).Fetal exposure to toxins or infections that interfere with normal skeletal development.
What are the symptoms of genetic skeletal disorders?
Common symptoms include; short bones of legs and/or arms, bowed or fractured bones, bones that may have different lengths, a small chest, abnormal ribs, duplication of fingers or toes and others.
What are genetic skeletal disorders care options?
Treatments and outcomes depend on the type and severity of the skeletal disorder. Depending on the diagnosis and severity, your Nicklaus Hospital multidisciplinary team will evaluate your child’s issues to the greatest extent and formulate a plan with you to ensure the optimal outcome possible for your particular child.
Reviewed by: Jack Wolfsdorf MD.
This page was last updated on: 10/29/2018 12:22:03 PM
From the Newsdesk
Nicklaus Children's Hospital will be one of a handful in the country to offer a fast turn-around on genome sequencing that can be a key to saving infants with rare and hard-to-diagnose genetic disorders. As seen on The Miami Herald.
Enzymes are particularly important in the processing of medicines and drugs. They determine how our bodies are going to handle the medicines we take, and if those medicines are going to help us feel better or not. This research study includes testing the status of the CYP2D6 gene in children.