Rare Diseases Symptoms Automatic Extraction

Coats' disease, megalopapilla and Cornelia de Lange syndrome.

[coats disease]

Cornelia de Lange syndrome (CdLS), a congenital disorder characterized by growth and mental retardation, hirsutism, and skeletal and cardiac anomalies, has been associated with a number of ophthalmic abnormalities including synophrys, long eyelashes, myopia, nasolacrimal duct obstruction, and ptosis. Only one case of Coats' disease has been described in the setting of this syndrome.(1) We describe a second case of Coats' disease in a five-year-old boy with this condition.

Diseases presenting "mental retardation" symptom

  • achondroplasia
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • aromatase deficiency
  • canavan disease
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • cowden syndrome
  • cystinuria
  • dentin dysplasia
  • familial hypocalciuric hypercalcemia
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • kabuki syndrome
  • kallmann syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
  • monosomy 21
  • phenylketonuria
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyruvate dehydrogenase deficiency
  • sneddon syndrome
  • triple a syndrome
  • wolf-hirschhorn syndrome
  • zellweger syndrome

This symptom has already been validated