Learn about some rare syndromes


Learn about some rare syndromes

You may seek to increase your unique medical information, so the article will present you with a group of rare syndromes, and the most prominent information about them.

Learn about some rare syndromes

There are many rare syndromes that do not affect large numbers of people and may result from genetics or the emergence of autoimmune diseases, and in the following, we will review some of these rare syndromes:

About some rare syndromes

There are a large number of rare syndromes, and we will mention a number of them in the following:

1. Ehlers Danlos Syndrome

Ehler-Danlos syndrome is represented by the presence of several diseases that affect the connective tissues of the skin, joints, and blood vessel walls, and it has several types, some of which occur for genetic reasons that may be inherited in the family.

This rare syndrome is characterized by the following symptoms:

  • Unnatural softness in the joints, causing joint dislocation and pain. 
  • Skin weakness and elasticity. 

There is no special treatment for Ehlers-Danlos syndrome, but the symptoms are treated by:

  • Physical therapy to strengthen muscles and maintain joint stability. 
  • Maintaining the level of blood pressure, to reduce pressure on the walls of blood vessels.
  • Take pain relievers, such as:
    • Paracetamol.
    • Ibuprofen.
    • Naproxen (Naproxen).
  • Surgery if it is necessary to repair joint damage caused by repeated dislocations, or to repair ruptured organs or blood vessels.

2. Carney complex

Complex Carney syndrome is a rare syndrome with an autosomal genotype, characterized by the pigmentation of the skin, endocrine diseases, and multiple endocrine and non-endocrine tumors.

Complex Carney syndrome is characterized by many symptoms, including:

  • Skin pigmentation.
  • mucocutaneous tumor ;
  • The appearance of lumps in the breast, thyroid gland, and testicle. 

Treatment in this rare syndrome is limited mainly to the treatment of hyperthyroidism, and the following methods may sometimes be used:

  • Cutting in case of malignant tumors and cardiac myxoma. 
  • Excision of benign tumors and mucosal tumors.
  • Antibiotics should be used as a precaution in the event of valve failure.

It should be noted that anticoagulants should not be used in the case of myxomas.

3. Kindler Syndrome

Kindler syndrome is a rare form of epidermolysis bullosa with an autosomal recessive pattern, with symptoms beginning in infancy.

This type of rare syndrome is characterized by several symptoms, including:

  • Frequent sores on the skin.
  • sensitivity to light;
  • Actinic keratosis.
  • Weakness in the mucous cells that line the mouth, eyes, esophagus, intestines, and urinary tract.

There is no cure for Kindler syndrome, but prevention is done by:

  • Use sunscreen.
  • Eat a healthy balanced diet.
  • Maintain dental health.

Actinic keratoses and cutaneous squamous cell carcinomas are treated if they appear.

4. Barth syndrome

Barth syndrome is a rare syndrome related to the X chromosome, and it is represented by symptoms that begin to appear from infancy.

Rare Barth syndrome is characterized by many symptoms that appear early in infancy, including:

  • Fetal cardiomyopathy.
  • Skeletal myopathy.
  • Low neutrophil count. 
  • Feeding problems.

There is no cure for Barth syndrome, but the symptoms are treated by:

  • Treatment of cardiovascular diseases.
  • Occupational and physical therapy to strengthen muscles and improve motor performance.
  • Use of antibiotics to treat recurrent infections caused by neutropenia. 
  • Special education in the event of suffering from learning difficulties

5. Acute esophageal necrosis syndrome

Acute esophageal necrosis syndrome is a rare syndrome that causes peripheral and diffuse black mucus in the esophagus.

The rare esophageal necrosis syndrome is characterized by several symptoms besides the appearance of black mucus, including:

  • Abdominal pain.
  • Nausea and vomiting.
  • Anemia.
  • An increase in the white blood cell count.

Treatment of this rare syndrome depends on treating the symptoms through:

  • Restoration of hemodynamic equilibrium.
  • Supportive blood transfusion.
  • Use of intravenous proton pump inhibitors.
  • Emphasis on not giving anything by mouth.

6. Patau's syndrome

Patau syndrome is a rare and serious syndrome, which is the presence of part of an extra copy or a complete extra copy of chromosome 13 in some or all cells, due to an error that occurs during cell division after fertilization.

This rare syndrome is characterized by several symptoms, such as:

  • A crack in the lip and roof of the mouth.
  • The small size of the head and eyes. 
  • deafness;
  • Problems with the growth of the airways.

In most cases, Patau syndrome causes miscarriage or stillbirth. In the few cases where the child survives after several days of life, treatment is based on symptoms.

7. Cohen syndrome 

Cohen syndrome is a rare syndrome that has been linked to a genetic mutation in the form of an autosomal chromosome, and it does not cause a shortened life expectancy, but rather affects the quality of life due to the symptoms it causes.

This syndrome causes many symptoms, including:

  • Decreased muscle tension.
  • Small head size.
  • Ears get bigger.
  • neutropenia;
  • Increased body weight.
  • Intellectual disabilities.
  • Vision problems, such as nearsightedness.

There is no cure for this syndrome, but the symptoms are treated by:

  • Wear eyeglasses if you have vision problems.
  • Private education.
  • Physical therapy to strengthen muscles.
  • Rehabilitation and behavioral therapy.
  • Use of antibiotics to treat respiratory infections.