Rare Diseases Symptoms Automatic Extraction

Overgrowth conditions: a diagnostic and therapeutic conundrum.

[proteus syndrome]

Over the past five decades, one of the major problems in the treatment of overgrowth syndromes of the hand has been classification. Currently, a number of specific conditions with known natural histories have been delineated and reviewed. Treatment is highly individualized. Amputation is still recommended for grotesque deformities of the upper limb. Early aggressive surgery, when indicated, will improve contour, function, and appearance. Specific therapeutic techniques include radical debulking, microvascular neurolysis, vascular reconstruction, epiphysiodesis, and, in some cases, thumb or digit replacement. Long-term outcomes remain in the good-to-fair range and are dependent upon the condition, reconstructive techniques employed, age of patient, and the severity of deformity.

Diseases presenting "long-term outcomes" symptom

  • acute rheumatic fever
  • alpha-thalassemia
  • aromatase deficiency
  • cholangiocarcinoma
  • classical phenylketonuria
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
  • dystrophic epidermolysis bullosa
  • esophageal squamous cell carcinoma
  • hirschsprung disease
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • lamellar ichthyosis
  • omenn syndrome
  • phenylketonuria
  • proteus syndrome
  • trochlear dysplasia
  • von hippel-lindau disease

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