Diseases And Treatments

Costello Syndrome - What It Is, Causes, Symptoms and Treatments

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Costello Syndrome - What It Is, Causes, Symptoms and Treatmentsto cope with this condition. In additionCostello Syndromeis a rare hereditary disease, also known as faciocutaneoskeletal syndrome or FCS syndrome. THECostello Syndromeis a disease generally little known to the general public.

THECostello Syndromeis an autosomal dominant syndrome of a multiple congenital anomaly and mental retardation characterized by developmental failure in the as a result of severe postnatal feeding difficulties, short stature, coarse facial features (full lips, big).The patient has thin (curly or thin), flaccid skin with deep folds on the palms and soles of the feet, papilloma of the face of the perianal region, diffuse hypotonia and laxity of the joints with ulnar deviation of the wrists and fingers and Achilles tendons straits. Cardiac involvement includes cardiac hypertrophy (typically typical hypertrophic cardiomyopathy), congenital heart defect (usually valvular pulmonary stenosis), and arrhythmia.

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Causes of Costello Syndrome:THECostello Syndromeis caused by mutations in the HRAS gene. It is considered an autosomal dominant disease, but almost all reported cases resulted from mutations of new genes and occurred in people with no history of the disease in the family.

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Symptoms of Costello Syndrome:Mutations in the gene in question lead to the emergence of differentCostello Syndrome, as:

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  • Presence of papillomas;
  • Mental retardation;
  • Difficulty sucking;
  • Foot cavus;
  • Macrocephaly;
  • Short neck;
  • Loose skin;
  • Strabismus;
  • Low ears and / or thick lobes;
  • Thicker lips;
  • Slow growth;
  • Rough facial skin;
  • Thin nails;
  • Dark pigmentation of the skin and thick, hardened and dry texture;
  • Sparse and curly hair;
  • Heart problems (abnormal heart rhythm);
  • Musculoskeletal joints of the highly flexible fingers;
  • Small and bulbous nose.
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Treatment of Costello Syndrome:There is no cure forCostello Syndrome, but treatments are under development. However, supportive care - from help with early childhood nutrition to special education - and treatment of complications such as heart problems can help affected children reach their potential.

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