Table of Contents
What causes Shprintzen syndrome?
Causes. Shprintzen-Goldberg syndrome is often caused by mutations in the SKI gene. This gene provides instructions for making a protein that regulates the transforming growth factor beta (TGF-β) signaling pathway.
What is Goldberg disease?
Shprintzen Goldberg syndrome (SGS) is an extremely rare connective tissue disorder characterized by craniofacial, skeletal, and cardiovascular deformities.
What gene causes pectus excavatum?
TINAG mutation as a genetic cause of pectus excavatum.
Why are people born with pectus excavatum?
Causes. There is no known cause for pectus excavatum. It can sometimes run in families — which suggests genetics may play a role. Pectus excavatum can also be associated with connective tissue disorders such as Marfan syndrome.
Is Larsen syndrome harmful?
Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood.
Is Larsen syndrome a disability?
If you are an adult who becomes disabled from Larsen Syndrome and are applying for long-term disability (LTD) benefits for the first time, you may be eligible to receive LTD benefits depending on the documentation of your functional restrictions and limitations in your medical records. At Law Med, we can help.
Is Marfan syndrome harmful?
Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.
How long do people with Larsen syndrome live?
Children with Larsen syndrome live into adulthood and can lead normal lives with careful medical care. In some cases, individuals with Larsen syndrome may experience painful or dislocated joints. These individuals may need a hip or knee replacement in early adulthood.