Fibrillin-1 mutations have also been found in patients who do not fulfil clinical criteria for the diagnosis of Marfan syndrome, but have related disorders of connective tissue, such as isolated ...

According to the Mayo Clinic, Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body.

Bayi hipotonia biasannya akan mengalami masalah dengan perkembangan motorik dan sensorinya. Berikut ini penjelasan lengkapnya ...

In adults the joint pain and fatigue associated with hypermobility-type EDS can be misdiagnosed as chronic fatigue syndrome, hypochondriasis, or depression. [25] Vascular-type EDS may also be ...

Biopsies may cause some discomfort and bruising. A breast biopsy is a simple procedure in which a doctor removes a small sample of tissue from a lump in the breast to send to a laboratory for testing.

Cushing syndrome occurs due to abnormally high levels of cortisol, which is commonly related to steroid use. Symptoms include weight gain, thinning skin, fluid retention, and stretch marks ...

It is important to identify infants of affected women as high-risk infants. Scrutinize the maternal history and, when possible, determine the specific EDS type of the mother or affected family ...

Scar tissue forms when a wound heals but is different from skin tissue. For example, it is less elastic, leading to tightness, limited movement, and pain. Exercise, moisturizing, and other home ...

What is Guillain-Barré syndrome? Guillain-Barré syndrome (GBS) is also called acute inflammatory demyelinating polyradiculoneuropathy (AIDP). It's a neurological disorder in which the body's immune ...

Klinefelter syndrome is a genetic condition that affects only males. Here's what you should know about the causes, symptoms, and treatment options for the condition. Klinefelter syndrome is a genetic ...