Rare Diseases Symptoms Automatic Extraction

[Macrodactylies of the hand and foot].

[proteus syndrome]

Macrodactyly is a rare congenital anomaly defined by an enlargement of all the structures of fingers or toes. Two forms of macrodactyly have been described. One form is static with an enlargement present at birth and growing proportionately to the other digits. The other is progressive with an enlargement beginning in early childhood and growing faster than that of the normal digits. Macrodactyly is responsible of a functional handicap and an aesthetic prejudice. Treatment may be indicated for this reason. Treatment must be individualised and depends on the proportionate size of the enlarged finger, growth rate and the patient's age when first seen. The parents and the child should be advised that multiple procedures may be required and that the result will be somewhat unsatisfactory. Surgical approaches include either reconstructive surgery or amputation. Amputation is indicated at any age for a large, unsightly and stiff digit that interferes with function of the rest of the hand. In feet with involvement of the lesser toes, proximal amputation has the best cosmetic and functional outcome. Epiphyseal arrest, bulk reduction procedures, finger shortening, lateral closing-wedge osteotomies or stripping of the nerves can be performed in the other cases.

Diseases presenting "early childhood" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • benign recurrent intrahepatic cholestasis
  • canavan disease
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cystinuria
  • erythropoietic protoporphyria
  • fabry disease
  • gm1 gangliosidosis
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • kindler syndrome
  • papillon-lefèvre syndrome
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • triple a syndrome
  • werner syndrome

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