DOLICHOSTENOMELIA

Dolichostenomelia is a hereditary condition that damages soft tissue, the substance that connects the body’s cells and provides it with strength. This illness may impact various major organs since soft tissue is present throughout the body. The cardiac and blood vessels, as well as the musculoskeletal and visual organs, are often damaged.

Dolichostenomelia is transmitted as an autosomal dominant characteristic, which means that having the disorder requires just one faulty version of this chromosome acquired from one parent. This disorder is caused by defects or losses (pathogenic variations) of the fibrillin-1 (FBN1) DNA.

SYMPTOMS

Since the condition may affect so many various parts of the body, the common symptoms of dolichostenomelia can vary widely, even across family members. Some individuals only have minor issues, while others suffer potentially fatal signs.

Here are the following symptoms:

  • Tall and thin stature
  • Abnormal length of arm, limbs, and fingers
  • Arched, high palate, and crowded teeth
  • Protruding or dipping breastbone
  • Intense nearsightedness
  • Unusually curved spine
  • Heart murmurs
  • Flat feet

DIAGNOSIS

Individuals who may have dolichostenomelia should be tested to see whether they are at risk for cardiac issues. Because this illness affects people differently, diagnosing it isn’t always straightforward.

To confirm a diagnosis of dolichostenomelia, specific symptoms and genetic factors must be present. In rare situations, a person may exhibit some symptoms but not sufficient to be diagnosed with the condition.

So, the following kind of tests may be performed:

  • Physical examination
  • Eye examinations
  • Heart tests
  • Genetic test

TREATMENT

Not everybody who has dolichostenomelia suffers from all of the side effects. The following problems in people having this disorder should be regularly monitored by their physician:

  • Heart failures, such as cardiac problems and aortic aneurysms
  • Bone abnormalities, such as scoliosis (a bent spine) or a depressed or protruding breastboneĀ 
  • Blurred vision or blindness that several eye diseases may cause
  • Teeth that are misaligned or packed together, requiring dental treatment
  • Breathing that becomes difficult due to a punctured lung

The kind of therapy is determined by which body sections are impacted. Aortic aneurysms may be effectively treated alone or with medication and surgery. Lowering blood pressure with medication may help prevent an aneurysm from fracturing and trigger aortic dissection.

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