Can you have Ehlers-Danlos and Marfan syndrome?

Can you have Ehlers-Danlos and Marfan syndrome?

Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. Both disorders have benefited from recent advances in clinical and molecular characterization, allowing improvements in clinical diagnosis and management.

How can you tell the difference between Marfan syndrome and EDS?

Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.

Are people with Ehlers-Danlos tall?

People with EDS tend to have a “marfanoid” appearance (e.g., tall, skinny, long arms and legs, “spidery” fingers). However, physical appearance and features in several types of EDS also have characteristics including short stature, large eyes, and the appearance of a small mouth and chin, due to a small palate.

Do people with Marfan syndrome have autism?

People with the rare Marfan syndrome often have long, thin faces with deep-set eyes and small lower jaws. Even some children with autism — a heterogeneous disorder with myriad susceptibility genes — have unusual facial features, or dysmorphology.

How does Ehlers Danlos syndrome differ from Marfan syndrome?

Like Marfan syndrome, Ehlers-Danlos syndrome is caused by a defect in the body’s connective tissue. Unlike Marfan syndrome, the fragile tissues and skin and unstable joints found in Ehlers-Danlos syndrome are due to defects in a group of proteins called collagen, proteins that add strength and elasticity to connective tissue.

What do you need to know about Ehlers Danlos syndrome?

Ehlers-Danlos Syndrome. Ehlers-Danlos syndrome is a group of genetic connective tissue disorders characterized by unstable, hypermobile joints, loose, “stretchy” skin, and fragile tissues. People with Ehlers-Danlos features need to see a doctor who knows about this and other connective tissue disorders for an accurate diagnosis;

What are the different phenotypes of Marfan syndrome?

MFS is typically characterized by cardiovascular, ocular, and skeletal manifestations and is caused by heterozygous mutations in FBN1, coding for the extracellular matrix (ECM) protein fibrillin-1. The most common cardiovascular phenotype involves aortic aneurysm and dissection at the sinuses of Valsalva.