Rare Diseases Symptoms Automatic Extraction

A child with mental retardation and asymmetrical hypertrophy of limbs.

[proteus syndrome]

A 5-year-old male child presented with progressively increasing asymmetrical overgrowth of limbs, hyperpigmentation on the right half of the body, and mental retardation since 9 months of age.

Diseases presenting "overgrowth" symptom

  • achondroplasia
  • cowden syndrome
  • dentin dysplasia
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • lymphangioleiomyomatosis
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • proteus syndrome
  • wolf-hirschhorn syndrome

This symptom has already been validated