Beals syndrome is otherwise congenital contracture arachnodactyly or Beals-Hecht syndrome. The essence of the disease is abnormalities in the structure of the skeleton and muscles. The most dangerous is the deformation of the spine, which crushes the organs in the chest, including the lungs. What are the causes and symptoms of Beals syndrome? What is the treatment?

Beals syndromeis congenital contracture arachnodactyly, arthrogryposis, distal (type 9), Beals-Hecht syndrome, is a rare disease, the essence of which are abnormalities in the structure of the skeleton and muscles.

Beals syndrome iny occurs with a frequency of less than 1: 10,000 worldwide. However, it is difficult to establish the actual incidence of Beals syndrome in the general population because it is very similar to the more famous Marfan syndrome (the Beals syndrome phenotype overlaps with the Marfan syndrome phenotype).

It is estimated that there are only 150 people worldwide with thisBealsa syndrome . Including only 4 in Poland.

Contents:

  1. Beals syndrome - causes
  2. Beals syndrome - symptoms
  3. Beals syndrome - diagnosis
  4. Beals syndrome - treatment

Beals syndrome - causes

Beals syndrome is a disease caused by a mutation in the fibrin 2 (FBN2) gene on chromosome 15q.23. Type 2 fibrin plays a role in the early periods of elastic fiber formation.

Fibrillin-2 binds to proteins and other molecules to form filamentous fibers called microfibrils, which provide strength and flexibility to the connective tissue found in the body's joints and organs. In addition, microfibrils regulate the activity of growth factors, which enable the growth and reconstruction of tissues throughout the body.

Beals syndrome is an autosomal dominant disease. This means that a person inherits one correct copy and one altered copy of the gene. However, the altered copy of the gene dominates or becomes more important than the working copy. This leaves them with a genetic condition.

However, in some cases it may be a spontaneous genetic mutation that appears for the first time in the family.

Beals syndrome - symptoms

  • joint contractures - which significantly restricts the freedom of movement, among others in hips, knees, ankles and elbows
  • elongated limbs(dolichostenomelia)
  • unnaturally long fingers and toes (arachnodactyly)
  • permanent flexion of fingers and toes (camptodactyly)
  • kyphoscoliosis - sometimes the spine is bent so that it crushes the organs in the chest, including the lungs

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  • crow's chest - the sternum is curved forward, like in a chicken
  • short neck
  • clubfoot
  • "crinkled" ears - the auricle has an unusually folded structure

There are also heart defects (mitral valve insufficiency, mitral valve prolapse syndrome), digestive system (esophageal and duodenal obstruction, intestinal marlotation), and eyesight (keratoconus and myopia).

Beals syndrome - diagnosis

Diagnosis is made by symptoms and genetic testing. Beals syndrome must be differentiated from other genetic diseases. In addition to the already mentioned Marfan syndrome, these will also include arthrogryposis, Gordon's syndrome, homocystinuria, and Stickler's syndrome.

Beals syndrome - treatment

Due to the fact that it is a genetic disease, there is no possibility of causal treatment. There is only symptomatic treatment.

The child requires the care of specialists in various fields:

  • genetics
  • pediatricians
  • cardiologist (due to heart defects)
  • orthopedic
  • ophthalmologist (due to visual impairment)
  • surgeon (spine curvatures are generally severe and require surgery)
  • rehabilitator (rehabilitation is necessary due to contractures)

Category:

Genetic diseases