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 "agenesis of the corpus callosum" symptom

  • cohen syndrome
  • hirschsprung disease
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • pyruvate dehydrogenase deficiency

This symptom has already been validated