Rare Diseases Symptoms Automatic Extraction

Finger creases lend a hand in Kabuki syndrome.

[kabuki syndrome]

Kabuki syndrome (KS) is a rare syndrome associating malformations with intellectual deficiency and numerous visceral, orthopedic, endocrinological, immune and autoimmune complications. The early establishment of a diagnostic of KS leads to better care of the patients and therefore prevents complications such as perception deafness, severe complications of auto-immune diseases or obesity. However, the diagnosis of KS remains difficult because based on the appreciation of facial features combined with other highly variable features. We describe a novel sign, namely the attenuation and/or congenital absence of the IPD crease of the third and fourth fingers associated with limitation of flexion of the corresponding joints, which seems to be specific of KS and could help the clinician to diagnose KS.

Diseases presenting "congenital absence" symptom

  • homocystinuria without methylmalonic aciduria
  • junctional epidermolysis bullosa
  • kabuki syndrome
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • oligodontia

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