Rare Diseases Symptoms Automatic Extraction

Ocular Findings and Treatment of a Young Boy With Coats' Plus.

[coats disease]

The authors describe a 34-month-old boy who presented with a bilateral and asymmetric exudative retinopathy with similarities to Coats' disease. The patient's medical history was remarkable for hypotonia, developmental delay, seizures, and intracranial calcifications. Genetic testing revealed a diagnosis of Coats' plus. This rare genetic disease should be in the differential diagnosis in patients who present with a bilateral and asymmetric Coats'-like retinopathy in the presence of other systemic abnormalities. [Ophthalmic Surg Lasers Imaging Retina. 2014;45:xxx-xxx.].

Diseases presenting "developmental delay" symptom

  • 22q11.2 deletion syndrome
  • achondroplasia
  • alexander disease
  • alpha-thalassemia
  • aniridia
  • canavan disease
  • child syndrome
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • gm1 gangliosidosis
  • harlequin ichthyosis
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • kallmann syndrome
  • krabbe disease
  • lamellar ichthyosis
  • monosomy 21
  • neonatal adrenoleukodystrophy
  • 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