Rare Diseases Symptoms Automatic Extraction

Agenesis of the corpus callosum, camptodactyly and obesity.

[cohen syndrome]

We report a 16-year-old girl with agenesis of the corpus callosum, congenital heart disease (ventricular septal defect and abnormal venous return), 5th digit camptodactyly and obesity, born to first cousin Italian parents. Although this child shares features with acrocallosal syndrome and Camera-Marugo-Cohen syndrome, we think that this combination of anomalies allows the delineation of a new MCA/MR syndrome, possibly recessively inherited.

Diseases presenting "congenital heart disease" symptom

  • 22q11.2 deletion syndrome
  • child syndrome
  • cohen syndrome
  • congenital diaphragmatic hernia
  • heparin-induced thrombocytopenia
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • kabuki syndrome
  • monosomy 21
  • omenn syndrome
  • phenylketonuria
  • wolf-hirschhorn syndrome

This symptom has already been validated